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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: 6-152132155-TG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152132155&ref=TG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"hgvs_c": "c.26060_26061delCAinsTC",
"hgvs_p": "p.Thr8687Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_182961.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300811",
"hgnc_id": null,
"hgvs_c": "n.206+2100_206+2101delTGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000774204.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"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": "I",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "T",
"aa_start": 8687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 26626,
"cds_end": null,
"cds_length": 26394,
"cds_start": 26060,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.26060_26061delCAinsTC",
"hgvs_p": "p.Thr8687Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367255.10",
"protein_coding": true,
"protein_id": "NP_892006.3",
"strand": false,
"transcript": "NM_182961.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "T",
"aa_start": 8687,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 26626,
"cds_end": null,
"cds_length": 26394,
"cds_start": 26060,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.26060_26061delCAinsTC",
"hgvs_p": "p.Thr8687Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182961.4",
"protein_coding": true,
"protein_id": "ENSP00000356224.5",
"strand": false,
"transcript": "ENST00000367255.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 975,
"aa_ref": "T",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2594,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347702.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.2594_2595delCAinsTC",
"hgvs_p": "p.Thr865Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000354674.5",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334631.1",
"strand": false,
"transcript": "NM_001347702.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 975,
"aa_ref": "T",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2594,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354674.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.2594_2595delCAinsTC",
"hgvs_p": "p.Thr865Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001347702.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346701.4",
"strand": false,
"transcript": "ENST00000354674.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "T",
"aa_start": 8639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 26393,
"cds_end": null,
"cds_length": 26250,
"cds_start": 25916,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25916_25917delCAinsTC",
"hgvs_p": "p.Thr8639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396024.1",
"strand": false,
"transcript": "ENST00000423061.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "T",
"aa_start": 1632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5837,
"cdna_start": 4896,
"cds_end": null,
"cds_length": 4965,
"cds_start": 4895,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367251.7",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.4895_4896delCAinsTC",
"hgvs_p": "p.Thr1632Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356220.3",
"strand": false,
"transcript": "ENST00000367251.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"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": "ENST00000347037.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.2808_2809delCAinsTC",
"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": "ENST00000347037.9",
"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": 10742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.9752_9753delCAinsTC",
"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": "ENST00000367256.9",
"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": 10634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.9644_9645delCAinsTC",
"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": "ENST00000409694.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000460912.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.2674_2675delCAinsTC",
"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": "ENST00000460912.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "T",
"aa_start": 8639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 26393,
"cds_end": null,
"cds_length": 26250,
"cds_start": 25916,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.25916_25917delCAinsTC",
"hgvs_p": "p.Thr8639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149062.2",
"strand": false,
"transcript": "NM_033071.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "T",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 3999,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367257.8",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.3998_3999delCAinsTC",
"hgvs_p": "p.Thr1333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356226.4",
"strand": false,
"transcript": "ENST00000367257.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 952,
"aa_ref": "T",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2525,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539504.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.2525_2526delCAinsTC",
"hgvs_p": "p.Thr842Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441052.1",
"strand": false,
"transcript": "ENST00000539504.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 911,
"aa_ref": "T",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2666,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347701.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.2666_2667delCAinsTC",
"hgvs_p": "p.Thr889Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334630.1",
"strand": false,
"transcript": "NM_001347701.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 911,
"aa_ref": "T",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2666,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536990.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.2666_2667delCAinsTC",
"hgvs_p": "p.Thr889Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516090.1",
"strand": false,
"transcript": "ENST00000536990.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 634,
"aa_ref": "T",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672169.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1835_1836delCAinsTC",
"hgvs_p": "p.Thr612Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500287.1",
"strand": false,
"transcript": "ENST00000672169.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "T",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673173.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1703_1704delCAinsTC",
"hgvs_p": "p.Thr568Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500180.1",
"strand": false,
"transcript": "ENST00000673173.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672154.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.1460_1461delCAinsTC",
"hgvs_p": "p.Thr487Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500128.1",
"strand": false,
"transcript": "ENST00000672154.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "T",
"aa_start": 8736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 26684,
"cds_end": null,
"cds_length": 26541,
"cds_start": 26207,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.26207_26208delCAinsTC",
"hgvs_p": "p.Thr8736Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715470.1",
"strand": false,
"transcript": "XM_006715407.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "T",
"aa_start": 8736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 26773,
"cds_end": null,
"cds_length": 26541,
"cds_start": 26207,
"consequences": [
"missense_variant"
],
"exon_count": 149,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.26207_26208delCAinsTC",
"hgvs_p": "p.Thr8736Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866097.1",
"strand": false,
"transcript": "XM_017010608.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "T",
"aa_start": 8736,
"biotype": "protein_coding",
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