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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: 4-98343165-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=98343165&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 98343165,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001100426.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "NM_001100427.2",
"protein_id": "NP_001093897.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 607,
"cds_start": 139,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "ENST00000408927.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100427.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000408927.8",
"protein_id": "ENSP00000386153.4",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 607,
"cds_start": 139,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "NM_001100427.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408927.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000339360.9",
"protein_id": "ENSP00000340454.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 608,
"cds_start": 142,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339360.9"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000453712.6",
"protein_id": "ENSP00000407157.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 607,
"cds_start": 142,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453712.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000380158.8",
"protein_id": "ENSP00000369503.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 559,
"cds_start": 142,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380158.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000408900.7",
"protein_id": "ENSP00000386223.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 558,
"cds_start": 139,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408900.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Ala80Pro",
"transcript": "ENST00000945540.1",
"protein_id": "ENSP00000615599.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 640,
"cds_start": 238,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945540.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "NM_001100426.2",
"protein_id": "NP_001093896.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 608,
"cds_start": 142,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100426.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "NM_021159.5",
"protein_id": "NP_066982.3",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 607,
"cds_start": 142,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021159.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000884481.1",
"protein_id": "ENSP00000554540.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 606,
"cds_start": 139,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884481.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000884490.1",
"protein_id": "ENSP00000554549.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 566,
"cds_start": 142,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884490.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000884483.1",
"protein_id": "ENSP00000554542.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 565,
"cds_start": 142,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884483.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000884487.1",
"protein_id": "ENSP00000554546.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 565,
"cds_start": 139,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884487.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000884488.1",
"protein_id": "ENSP00000554547.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 565,
"cds_start": 139,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884488.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro",
"transcript": "ENST00000945541.1",
"protein_id": "ENSP00000615600.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 565,
"cds_start": 142,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945541.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000945548.1",
"protein_id": "ENSP00000615607.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 565,
"cds_start": 139,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945548.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000884497.1",
"protein_id": "ENSP00000554556.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 564,
"cds_start": 139,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884497.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000932078.1",
"protein_id": "ENSP00000602137.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 564,
"cds_start": 139,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932078.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000945542.1",
"protein_id": "ENSP00000615601.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 564,
"cds_start": 139,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945542.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000945544.1",
"protein_id": "ENSP00000615603.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 564,
"cds_start": 139,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945544.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000945546.1",
"protein_id": "ENSP00000615605.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 564,
"cds_start": 139,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945546.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.139G>C",
"hgvs_p": "p.Ala47Pro",
"transcript": "ENST00000884494.1",
"protein_id": "ENSP00000554553.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 563,
"cds_start": 139,
"cds_end": null,
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"computational_score_selected": 0.18485692143440247,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.3924,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.798,
"phylop100way_prediction": "Uncertain_significance",
"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_001100426.2",
"gene_symbol": "RAP1GDS1",
"hgnc_id": 9859,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Ala48Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}