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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: 7-122388696-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122388696&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122388696,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363389.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3051T>A",
"hgvs_p": "p.Asp1017Glu",
"transcript": "NM_017954.11",
"protein_id": "NP_060424.9",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449022.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017954.11"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3051T>A",
"hgvs_p": "p.Asp1017Glu",
"transcript": "ENST00000449022.7",
"protein_id": "ENSP00000398481.2",
"transcript_support_level": 5,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017954.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449022.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2913T>A",
"hgvs_p": "p.Asp971Glu",
"transcript": "ENST00000412584.6",
"protein_id": "ENSP00000400401.2",
"transcript_support_level": 1,
"aa_start": 971,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412584.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3072T>A",
"hgvs_p": "p.Asp1024Glu",
"transcript": "NM_001363389.2",
"protein_id": "NP_001350318.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363389.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3072T>A",
"hgvs_p": "p.Asp1024Glu",
"transcript": "NM_001363390.2",
"protein_id": "NP_001350319.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363390.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3054T>A",
"hgvs_p": "p.Asp1018Glu",
"transcript": "ENST00000951082.1",
"protein_id": "ENSP00000621141.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951082.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3063T>A",
"hgvs_p": "p.Asp1021Glu",
"transcript": "NM_001167940.2",
"protein_id": "NP_001161412.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3063,
"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": "NM_001167940.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3063T>A",
"hgvs_p": "p.Asp1021Glu",
"transcript": "NM_001363391.2",
"protein_id": "NP_001350320.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3063,
"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": "NM_001363391.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3033T>A",
"hgvs_p": "p.Asp1011Glu",
"transcript": "ENST00000951078.1",
"protein_id": "ENSP00000621137.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3033,
"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": "ENST00000951078.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3033T>A",
"hgvs_p": "p.Asp1011Glu",
"transcript": "ENST00000870413.1",
"protein_id": "ENSP00000540472.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3033,
"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": "ENST00000870413.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3033T>A",
"hgvs_p": "p.Asp1011Glu",
"transcript": "ENST00000951090.1",
"protein_id": "ENSP00000621149.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951090.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2985T>A",
"hgvs_p": "p.Asp995Glu",
"transcript": "ENST00000951089.1",
"protein_id": "ENSP00000621148.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2985,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951089.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2952T>A",
"hgvs_p": "p.Asp984Glu",
"transcript": "NM_001363392.2",
"protein_id": "NP_001350321.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2952,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363392.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2952T>A",
"hgvs_p": "p.Asp984Glu",
"transcript": "NM_001363393.2",
"protein_id": "NP_001350322.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2952,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363393.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2934T>A",
"hgvs_p": "p.Asp978Glu",
"transcript": "ENST00000951079.1",
"protein_id": "ENSP00000621138.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951079.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2943T>A",
"hgvs_p": "p.Asp981Glu",
"transcript": "NM_001363394.2",
"protein_id": "NP_001350323.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2943,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363394.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2934T>A",
"hgvs_p": "p.Asp978Glu",
"transcript": "NM_001363395.2",
"protein_id": "NP_001350324.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2934,
"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": "NM_001363395.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2934T>A",
"hgvs_p": "p.Asp978Glu",
"transcript": "ENST00000870411.1",
"protein_id": "ENSP00000540470.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2934,
"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": "ENST00000870411.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2931T>A",
"hgvs_p": "p.Asp977Glu",
"transcript": "NM_001363396.2",
"protein_id": "NP_001350325.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363396.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2913T>A",
"hgvs_p": "p.Asp971Glu",
"transcript": "NM_001009571.4",
"protein_id": "NP_001009571.2",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009571.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2922T>A",
"hgvs_p": "p.Asp974Glu",
"transcript": "NM_001363397.2",
"protein_id": "NP_001350326.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363397.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.2913T>A",
"hgvs_p": "p.Asp971Glu",
"transcript": "NM_001363398.2",
"protein_id": "NP_001350327.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2913,
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}
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}