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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: 9-137782295-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137782295&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137782295,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024757.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024757.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460843.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp",
"transcript": "ENST00000462484.5",
"protein_id": "ENSP00000417328.1",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 808,
"cds_start": 2280,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462484.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2352C>T",
"hgvs_p": "p.Asp784Asp",
"transcript": "ENST00000896765.1",
"protein_id": "ENSP00000566824.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2352,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896765.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Asp753Asp",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354263.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2256C>T",
"hgvs_p": "p.Asp752Asp",
"transcript": "ENST00000896763.1",
"protein_id": "ENSP00000566822.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2256,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896763.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Asp727Asp",
"transcript": "ENST00000918862.1",
"protein_id": "ENSP00000588921.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1276,
"cds_start": 2181,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918862.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Asp729Asp",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637161.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Asp727Asp",
"transcript": "ENST00000896761.1",
"protein_id": "ENSP00000566820.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2181,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896761.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Asp726Asp",
"transcript": "ENST00000896762.1",
"protein_id": "ENSP00000566821.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896762.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp",
"transcript": "ENST00000896766.1",
"protein_id": "ENSP00000566825.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896766.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Asp727Asp",
"transcript": "ENST00000918863.1",
"protein_id": "ENSP00000588922.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2181,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918863.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Asp727Asp",
"transcript": "ENST00000918861.1",
"protein_id": "ENSP00000588920.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2181,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918861.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Asp722Asp",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 722,
"aa_end": null,
"aa_length": 980,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636027.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Asp729Asp",
"transcript": "NM_001354259.2",
"protein_id": "NP_001341188.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 825,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354259.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp",
"transcript": "NM_001145527.2",
"protein_id": "NP_001138999.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 808,
"cds_start": 2280,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145527.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Asp763Asp",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2289,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519021.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2286C>T",
"hgvs_p": "p.Asp762Asp",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1300,
"cds_start": 2286,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519022.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2271C>T",
"hgvs_p": "p.Asp757Asp",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423872.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2268C>T",
"hgvs_p": "p.Asp756Asp",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2268,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519023.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2265C>T",
"hgvs_p": "p.Asp755Asp",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2265,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015134.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Asp750Asp",
"transcript": "XM_047423873.1",
"protein_id": "XP_047279829.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2250,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
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{
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{
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{
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"gene_symbol": "EHMT1",
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"transcript": "ENST00000637891.1",
"protein_id": "ENSP00000490907.1",
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{
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{
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{
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],
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"biotype": "pseudogene",
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{
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"gene_symbol": "EHMT1",
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"transcript": "ENST00000637949.1",
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],
"gene_symbol": "EHMT1",
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"dbsnp": "rs372779658",
"frequency_reference_population": 0.00013636865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 220,
"gnomad_exomes_af": 0.000121153,
"gnomad_genomes_af": 0.000282319,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 43,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.197,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_024757.5",
"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2280C>T",
"hgvs_p": "p.Asp760Asp"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000626603.1",
"gene_symbol": "ENSG00000293104",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1061-4907G>A",
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}
],
"clinvar_disease": "Inborn genetic diseases,Kleefstra syndrome 1,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Kleefstra syndrome 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}