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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: 22-30663634-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30663634&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30663634,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152511.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_152511.5",
"protein_id": "NP_689724.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": "ENST00000334679.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152511.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000334679.4",
"protein_id": "ENSP00000333917.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": "NM_152511.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334679.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000404885.5",
"protein_id": "ENSP00000385463.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404885.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87His",
"transcript": "ENST00000403268.1",
"protein_id": "ENSP00000384946.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 117,
"cds_start": 260,
"cds_end": null,
"cds_length": 354,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35E4",
"gene_hgnc_id": 17058,
"hgvs_c": "c.548-1859C>T",
"hgvs_p": null,
"transcript": "ENST00000451479.1",
"protein_id": "ENSP00000413552.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451479.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001304794.2",
"protein_id": "NP_001291723.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304794.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "NM_001304795.2",
"protein_id": "NP_001291724.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304795.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000407308.1",
"protein_id": "ENSP00000386063.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407308.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866296.1",
"protein_id": "ENSP00000536355.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866296.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866297.1",
"protein_id": "ENSP00000536356.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866297.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866298.1",
"protein_id": "ENSP00000536357.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866298.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866299.1",
"protein_id": "ENSP00000536358.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866299.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866300.1",
"protein_id": "ENSP00000536359.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866300.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866301.1",
"protein_id": "ENSP00000536360.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866301.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000866302.1",
"protein_id": "ENSP00000536361.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866302.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000912603.1",
"protein_id": "ENSP00000582662.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912603.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000912604.1",
"protein_id": "ENSP00000582663.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912604.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000965881.1",
"protein_id": "ENSP00000635940.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965881.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000965882.1",
"protein_id": "ENSP00000635941.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965882.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000965883.1",
"protein_id": "ENSP00000635942.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965883.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000965884.1",
"protein_id": "ENSP00000635943.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 188,
"cds_start": 370,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965884.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP18",
"gene_hgnc_id": 18484,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Ala124Thr",
"transcript": "ENST00000342474.4",
"protein_id": "ENSP00000340795.4",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 162,
"cds_start": 370,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342474.4"
},
{
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{
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{
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{
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{
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{
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{
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{
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{
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],
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"dbsnp": "rs775433384",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.08187174797058105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152511.5",
"gene_symbol": "DUSP18",
"hgnc_id": 18484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318371.2",
"gene_symbol": "SLC35E4",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}