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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: 12-113102002-GCC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113102002&ref=GCC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RASAL1",
"hgnc_id": 9873,
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001193520.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301202.2",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000548055.2",
"protein_coding": true,
"protein_id": "NP_001288131.1",
"strand": false,
"transcript": "NM_001301202.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548055.2",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001301202.2",
"protein_coding": true,
"protein_id": "ENSP00000448510.1",
"strand": false,
"transcript": "ENST00000548055.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546530.5",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450244.1",
"strand": false,
"transcript": "ENST00000546530.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261729.9",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2107_2109delGGCinsAGT",
"hgvs_p": "p.Gly703Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261729.5",
"strand": false,
"transcript": "ENST00000261729.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 776,
"aa_ref": "G",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446861.7",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2023_2025delGGCinsAGT",
"hgvs_p": "p.Gly675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395920.3",
"strand": false,
"transcript": "ENST00000446861.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000551051.5",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "n.2384_2386delGGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000551051.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546727.5",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "n.2332-1324_2332-1322delGGCinsAGT",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000546727.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193520.2",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180449.1",
"strand": false,
"transcript": "NM_001193520.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3371,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394081.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381010.1",
"strand": false,
"transcript": "NM_001394081.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888554.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558613.1",
"strand": false,
"transcript": "ENST00000888554.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888555.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2113_2115delGGCinsAGT",
"hgvs_p": "p.Gly705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558614.1",
"strand": false,
"transcript": "ENST00000888555.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394082.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381011.1",
"strand": false,
"transcript": "NM_001394082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394083.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381012.1",
"strand": false,
"transcript": "NM_001394083.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394084.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381013.1",
"strand": false,
"transcript": "NM_001394084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888551.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558610.1",
"strand": false,
"transcript": "ENST00000888551.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888552.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558611.1",
"strand": false,
"transcript": "ENST00000888552.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888553.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558612.1",
"strand": false,
"transcript": "ENST00000888553.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "G",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888558.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2110_2112delGGCinsAGT",
"hgvs_p": "p.Gly704Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558617.1",
"strand": false,
"transcript": "ENST00000888558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394085.1",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2107_2109delGGCinsAGT",
"hgvs_p": "p.Gly703Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381014.1",
"strand": false,
"transcript": "NM_001394085.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004658.3",
"gene_hgnc_id": 9873,
"gene_symbol": "RASAL1",
"hgvs_c": "c.2107_2109delGGCinsAGT",
"hgvs_p": "p.Gly703Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004649.2",
"strand": false,
"transcript": "NM_004658.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
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