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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: 9-137744053-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137744053&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137744053,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000460843.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "ENST00000462484.5",
"protein_id": "ENSP00000417328.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 808,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Ser371Phe",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1291,
"cds_start": 1112,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Phe",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1040,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Ser340Phe",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 980,
"cds_start": 1019,
"cds_end": null,
"cds_length": 2945,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Phe",
"transcript": "NM_001354259.2",
"protein_id": "NP_001341188.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 825,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "NM_001145527.2",
"protein_id": "NP_001138999.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 808,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "NM_001354611.2",
"protein_id": "NP_001341540.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 556,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "ENST00000629335.2",
"protein_id": "ENSP00000490056.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 556,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ser359Phe",
"transcript": "ENST00000637977.1",
"protein_id": "ENSP00000490714.1",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 542,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Phe",
"transcript": "NM_001354612.2",
"protein_id": "NP_001341541.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 525,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ser345Phe",
"transcript": "ENST00000626066.2",
"protein_id": "ENSP00000485900.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 430,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1295,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Phe",
"transcript": "ENST00000640639.1",
"protein_id": "ENSP00000491823.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 393,
"cds_start": 302,
"cds_end": null,
"cds_length": 1183,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Phe",
"transcript": "ENST00000629808.2",
"protein_id": "ENSP00000485947.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 228,
"cds_start": 302,
"cds_end": null,
"cds_length": 687,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ser86Phe",
"transcript": "ENST00000478940.1",
"protein_id": "ENSP00000490732.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 126,
"cds_start": 257,
"cds_end": null,
"cds_length": 381,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ser86Phe",
"transcript": "ENST00000637318.1",
"protein_id": "ENSP00000490611.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 126,
"cds_start": 257,
"cds_end": null,
"cds_length": 381,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Ser381Phe",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1142,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1300,
"cds_start": 1139,
"cds_end": null,
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"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1124,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ser374Phe",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1121,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ser373Phe",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1293,
"cds_start": 1118,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 10,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 16,
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"gene_symbol": "EHMT1",
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"hgvs_c": "n.*868C>T",
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"transcript": "ENST00000371394.6",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 24,
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"gene_symbol": "EHMT1",
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"hgvs_c": "n.*339C>T",
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"transcript": "ENST00000637261.1",
"protein_id": "ENSP00000490815.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 10,
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"gene_symbol": "EHMT1",
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"transcript": "ENST00000638071.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 22,
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"gene_symbol": "EHMT1",
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"hgvs_c": "n.-11C>T",
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"transcript": "ENST00000462942.3",
"protein_id": "ENSP00000436107.1",
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"cdna_length": 7842,
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"feature": null
}
],
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"dbsnp": "rs780462689",
"frequency_reference_population": 0.0000037174675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205221,
"gnomad_genomes_af": 0.0000197156,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.333837628364563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.162,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.726,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000460843.6",
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe"
}
],
"clinvar_disease": "Kleefstra syndrome 1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Kleefstra syndrome 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}