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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: 16-53470809-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53470809&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53470809,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_005611.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "NM_005611.4",
"protein_id": "NP_005602.3",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262133.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005611.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000262133.11",
"protein_id": "ENSP00000262133.6",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005611.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262133.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "n.2289T>C",
"hgvs_p": null,
"transcript": "ENST00000379935.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000379935.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000894791.1",
"protein_id": "ENSP00000564850.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894791.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "NM_001323608.2",
"protein_id": "NP_001310537.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323608.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Leu859Leu",
"transcript": "ENST00000894793.1",
"protein_id": "ENSP00000564852.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894793.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "NM_001323609.2",
"protein_id": "NP_001310538.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323609.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000894787.1",
"protein_id": "ENSP00000564846.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894787.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000894786.1",
"protein_id": "ENSP00000564845.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894786.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2476T>C",
"hgvs_p": "p.Leu826Leu",
"transcript": "ENST00000949710.1",
"protein_id": "ENSP00000619769.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2476,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949710.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2461T>C",
"hgvs_p": "p.Leu821Leu",
"transcript": "ENST00000894790.1",
"protein_id": "ENSP00000564849.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2461,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894790.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2452T>C",
"hgvs_p": "p.Leu818Leu",
"transcript": "ENST00000894788.1",
"protein_id": "ENSP00000564847.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2452,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894788.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2443T>C",
"hgvs_p": "p.Leu815Leu",
"transcript": "NM_001323610.2",
"protein_id": "NP_001310539.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2443,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323610.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000949706.1",
"protein_id": "ENSP00000619765.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949706.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2389T>C",
"hgvs_p": "p.Leu797Leu",
"transcript": "ENST00000894794.1",
"protein_id": "ENSP00000564853.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2389,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894794.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2383T>C",
"hgvs_p": "p.Leu795Leu",
"transcript": "ENST00000937511.1",
"protein_id": "ENSP00000607570.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937511.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2380T>C",
"hgvs_p": "p.Leu794Leu",
"transcript": "ENST00000949711.1",
"protein_id": "ENSP00000619770.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2380,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949711.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2368T>C",
"hgvs_p": "p.Leu790Leu",
"transcript": "NM_001323611.1",
"protein_id": "NP_001310540.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323611.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2320T>C",
"hgvs_p": "p.Leu774Leu",
"transcript": "ENST00000894789.1",
"protein_id": "ENSP00000564848.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2320,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894789.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2287T>C",
"hgvs_p": "p.Leu763Leu",
"transcript": "ENST00000949708.1",
"protein_id": "ENSP00000619767.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2287,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949708.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000949709.1",
"protein_id": "ENSP00000619768.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949709.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL2",
"gene_hgnc_id": 9894,
"hgvs_c": "c.2590T>C",
"hgvs_p": "p.Leu864Leu",
"transcript": "ENST00000894792.1",
"protein_id": "ENSP00000564851.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 957,
"cds_start": 2590,
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{
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"BA1"
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"verdict": "Benign",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}