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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: 12-47235073-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47235073&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 47235073,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138371.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "NM_138371.3",
"protein_id": "NP_612380.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000546455.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138371.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000546455.6",
"protein_id": "ENSP00000446688.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138371.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546455.6"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "NM_001281429.2",
"protein_id": "NP_001268358.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281429.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000432328.2",
"protein_id": "ENSP00000396040.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432328.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872013.1",
"protein_id": "ENSP00000542072.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872013.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872014.1",
"protein_id": "ENSP00000542073.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872014.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872015.1",
"protein_id": "ENSP00000542074.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872015.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872016.1",
"protein_id": "ENSP00000542075.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872016.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872017.1",
"protein_id": "ENSP00000542076.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872017.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872018.1",
"protein_id": "ENSP00000542077.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872018.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872019.1",
"protein_id": "ENSP00000542078.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872019.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872020.1",
"protein_id": "ENSP00000542079.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872020.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872021.1",
"protein_id": "ENSP00000542080.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872021.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872022.1",
"protein_id": "ENSP00000542081.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872022.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872023.1",
"protein_id": "ENSP00000542082.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872023.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872024.1",
"protein_id": "ENSP00000542083.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872024.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872025.1",
"protein_id": "ENSP00000542084.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872025.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872026.1",
"protein_id": "ENSP00000542085.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872026.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872027.1",
"protein_id": "ENSP00000542086.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872027.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872028.1",
"protein_id": "ENSP00000542087.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872028.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000872029.1",
"protein_id": "ENSP00000542088.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872029.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met",
"transcript": "ENST00000929640.1",
"protein_id": "ENSP00000599699.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 432,
"cds_start": 10,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"revel_prediction": "Benign",
"alphamissense_score": 0.3758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.224,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"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_138371.3",
"gene_symbol": "PCED1B",
"hgnc_id": 28255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Met"
}
],
"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
}