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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: 10-89014157-GT-GTCAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89014157&ref=GT&alt=GTCAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "FAS",
"hgnc_id": 11920,
"hgvs_c": "c.762_764dupCAT",
"hgvs_p": "p.Val254_Met255insIle",
"inheritance_mode": "AR,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001410956.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": "IM",
"aa_end": null,
"aa_length": 335,
"aa_ref": "M",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1008,
"cds_start": 720,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000043.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.717_719dupCAT",
"hgvs_p": "p.Val239_Met240insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652046.1",
"protein_coding": true,
"protein_id": "NP_000034.1",
"strand": true,
"transcript": "NM_000043.6",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 335,
"aa_ref": "M",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1008,
"cds_start": 720,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000652046.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.717_719dupCAT",
"hgvs_p": "p.Val239_Met240insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000043.6",
"protein_coding": true,
"protein_id": "ENSP00000498466.1",
"strand": true,
"transcript": "ENST00000652046.1",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 314,
"aa_ref": "M",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": 975,
"cds_end": null,
"cds_length": 945,
"cds_start": 657,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357339.7",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.654_656dupCAT",
"hgvs_p": "p.Val218_Met219insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349896.2",
"strand": true,
"transcript": "ENST00000357339.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 220,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355279.2",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.*29_*31dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347426.2",
"strand": true,
"transcript": "ENST00000355279.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": null,
"cds_end": null,
"cds_length": 594,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355740.8",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.*40_*42dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347979.3",
"strand": true,
"transcript": "ENST00000355740.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": null,
"cds_end": null,
"cds_length": 450,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000494410.5",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.*75_*77dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423755.1",
"strand": true,
"transcript": "ENST00000494410.5",
"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": 2616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000313771.10",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.1026_1028dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000313771.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000479522.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*146_*148dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424113.1",
"strand": true,
"transcript": "ENST00000479522.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000484444.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*158_*160dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420975.1",
"strand": true,
"transcript": "ENST00000484444.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488877.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*158_*160dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425159.1",
"strand": true,
"transcript": "ENST00000488877.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000492756.7",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*146_*148dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422453.1",
"strand": true,
"transcript": "ENST00000492756.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000479522.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*146_*148dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424113.1",
"strand": true,
"transcript": "ENST00000479522.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000484444.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*158_*160dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420975.1",
"strand": true,
"transcript": "ENST00000484444.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488877.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*158_*160dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425159.1",
"strand": true,
"transcript": "ENST00000488877.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000492756.7",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.*146_*148dupCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422453.1",
"strand": true,
"transcript": "ENST00000492756.7",
"transcript_support_level": 1
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 366,
"aa_ref": "M",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1101,
"cds_start": 813,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696776.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.810_812dupCAT",
"hgvs_p": "p.Val270_Met271insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512861.1",
"strand": true,
"transcript": "ENST00000696776.1",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 362,
"aa_ref": "M",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16484,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1089,
"cds_start": 801,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000690268.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.798_800dupCAT",
"hgvs_p": "p.Val266_Met267insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509810.1",
"strand": true,
"transcript": "ENST00000690268.1",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 350,
"aa_ref": "M",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1053,
"cds_start": 765,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001410956.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.762_764dupCAT",
"hgvs_p": "p.Val254_Met255insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397885.1",
"strand": true,
"transcript": "NM_001410956.1",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 350,
"aa_ref": "M",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1053,
"cds_start": 765,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000477270.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.762_764dupCAT",
"hgvs_p": "p.Val254_Met255insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512813.1",
"strand": true,
"transcript": "ENST00000477270.6",
"transcript_support_level": 5
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 345,
"aa_ref": "M",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1038,
"cds_start": 750,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696780.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.747_749dupCAT",
"hgvs_p": "p.Val249_Met250insIle",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512863.1",
"strand": true,
"transcript": "ENST00000696780.1",
"transcript_support_level": null
},
{
"aa_alt": "IM",
"aa_end": null,
"aa_length": 314,
"aa_ref": "M",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 736,
"cds_end": null,
"cds_length": 945,
"cds_start": 657,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_152871.4",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.654_656dupCAT",
"hgvs_p": "p.Val218_Met219insIle",
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