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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: 21-45504504-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45504504&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45504504,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_130444.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2823dupC",
"hgvs_p": "p.Gly942fs",
"transcript": "NM_001379500.1",
"protein_id": "NP_001366429.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2824,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": "ENST00000651438.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379500.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2823dupC",
"hgvs_p": "p.Gly942fs",
"transcript": "ENST00000651438.1",
"protein_id": "ENSP00000498485.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2824,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": "NM_001379500.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651438.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3363dupC",
"hgvs_p": "p.Gly1122fs",
"transcript": "ENST00000355480.10",
"protein_id": "ENSP00000347665.5",
"transcript_support_level": 1,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3364,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355480.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1294-5893dupG",
"hgvs_p": null,
"transcript": "ENST00000567670.5",
"protein_id": "ENSP00000457278.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": null,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.496-5893dupG",
"hgvs_p": null,
"transcript": "ENST00000417954.5",
"protein_id": "ENSP00000393988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417954.5"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.4068dupC",
"hgvs_p": "p.Gly1357fs",
"transcript": "NM_130444.3",
"protein_id": "NP_569711.2",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4069,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 6596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130444.3"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.4068dupC",
"hgvs_p": "p.Gly1357fs",
"transcript": "ENST00000359759.8",
"protein_id": "ENSP00000352798.4",
"transcript_support_level": 5,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4069,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 4069,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359759.8"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3363dupC",
"hgvs_p": "p.Gly1122fs",
"transcript": "NM_030582.4",
"protein_id": "NP_085059.2",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3364,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030582.4"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3255dupC",
"hgvs_p": "p.Gly1086fs",
"transcript": "ENST00000859062.1",
"protein_id": "ENSP00000529121.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3256,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859062.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2760dupC",
"hgvs_p": "p.Gly921fs",
"transcript": "ENST00000930602.1",
"protein_id": "ENSP00000600661.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1421,
"cds_start": 2761,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930602.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2892dupC",
"hgvs_p": "p.Gly965fs",
"transcript": "ENST00000859069.1",
"protein_id": "ENSP00000529128.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1362,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859069.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2883dupC",
"hgvs_p": "p.Gly962fs",
"transcript": "ENST00000859068.1",
"protein_id": "ENSP00000529127.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2884,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859068.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2877dupC",
"hgvs_p": "p.Gly960fs",
"transcript": "ENST00000859063.1",
"protein_id": "ENSP00000529122.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859063.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2823dupC",
"hgvs_p": "p.Gly942fs",
"transcript": "ENST00000859060.1",
"protein_id": "ENSP00000529119.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1350,
"cds_start": 2824,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859060.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2814dupC",
"hgvs_p": "p.Gly939fs",
"transcript": "ENST00000970099.1",
"protein_id": "ENSP00000640158.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2815,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970099.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2796dupC",
"hgvs_p": "p.Gly933fs",
"transcript": "ENST00000859066.1",
"protein_id": "ENSP00000529125.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859066.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2793dupC",
"hgvs_p": "p.Gly932fs",
"transcript": "ENST00000930597.1",
"protein_id": "ENSP00000600656.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930597.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2796dupC",
"hgvs_p": "p.Gly933fs",
"transcript": "ENST00000970097.1",
"protein_id": "ENSP00000640156.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 2889,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970097.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2793dupC",
"hgvs_p": "p.Gly932fs",
"transcript": "ENST00000859067.1",
"protein_id": "ENSP00000529126.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1329,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859067.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2787dupC",
"hgvs_p": "p.Gly930fs",
"transcript": "ENST00000859059.1",
"protein_id": "ENSP00000529118.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859059.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2769dupC",
"hgvs_p": "p.Gly924fs",
"transcript": "ENST00000930601.1",
"protein_id": "ENSP00000600660.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930601.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2760dupC",
"hgvs_p": "p.Gly921fs",
"transcript": "ENST00000930595.1",
"protein_id": "ENSP00000600654.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
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{
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}
],
"message": null
}