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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: 11-61300154-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61300154&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61300154,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000301764.12",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3405G>A",
"hgvs_p": "p.Glu1135Glu",
"transcript": "NM_001923.5",
"protein_id": "NP_001914.3",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": "ENST00000301764.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3405G>A",
"hgvs_p": "p.Glu1135Glu",
"transcript": "ENST00000301764.12",
"protein_id": "ENSP00000301764.7",
"transcript_support_level": 1,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": "NM_001923.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3405G>A",
"hgvs_p": "p.Glu1135Glu",
"transcript": "ENST00000680367.1",
"protein_id": "ENSP00000506223.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3405G>A",
"hgvs_p": "p.Glu1135Glu",
"transcript": "ENST00000681803.1",
"protein_id": "ENSP00000506685.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3649,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Glu1102Glu",
"transcript": "ENST00000681935.1",
"protein_id": "ENSP00000505717.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3237G>A",
"hgvs_p": "p.Glu1079Glu",
"transcript": "ENST00000679588.1",
"protein_id": "ENSP00000506134.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 4184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3192G>A",
"hgvs_p": "p.Glu1064Glu",
"transcript": "ENST00000679712.1",
"protein_id": "ENSP00000504878.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3192,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3183G>A",
"hgvs_p": "p.Glu1061Glu",
"transcript": "ENST00000680075.1",
"protein_id": "ENSP00000504954.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3168G>A",
"hgvs_p": "p.Glu1056Glu",
"transcript": "ENST00000680602.1",
"protein_id": "ENSP00000505437.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3168,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Glu1022Glu",
"transcript": "ENST00000680717.1",
"protein_id": "ENSP00000506457.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1027,
"cds_start": 3066,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.626G>A",
"hgvs_p": null,
"transcript": "ENST00000451943.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*1939G>A",
"hgvs_p": null,
"transcript": "ENST00000535283.6",
"protein_id": "ENSP00000441825.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.775G>A",
"hgvs_p": null,
"transcript": "ENST00000538470.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.1809G>A",
"hgvs_p": null,
"transcript": "ENST00000545894.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.3769G>A",
"hgvs_p": null,
"transcript": "ENST00000680250.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.1939G>A",
"hgvs_p": null,
"transcript": "ENST00000680345.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*2868G>A",
"hgvs_p": null,
"transcript": "ENST00000680357.1",
"protein_id": "ENSP00000506385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.2419G>A",
"hgvs_p": null,
"transcript": "ENST00000680452.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.3644G>A",
"hgvs_p": null,
"transcript": "ENST00000680881.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.2424G>A",
"hgvs_p": null,
"transcript": "ENST00000680959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*3269G>A",
"hgvs_p": null,
"transcript": "ENST00000681188.1",
"protein_id": "ENSP00000506472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"phylop100way_prediction": "Benign",
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{
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"BP7"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}