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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: 10-89010782-CTT-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89010782&ref=CTT&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAS",
"hgnc_id": 11920,
"hgvs_c": "c.580_582delCTTinsAGA",
"hgvs_p": "p.Leu194Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001410956.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"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": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1008,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000043.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"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": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1008,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652046.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"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": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": 535,
"cds_end": null,
"cds_length": 663,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355279.2",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"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": "R",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 585,
"cds_end": null,
"cds_length": 594,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355740.8",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"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": "VD",
"aa_end": null,
"aa_length": 149,
"aa_ref": "VF",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": 451,
"cds_end": null,
"cds_length": 450,
"cds_start": 426,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494410.5",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.426_428delCTTinsAGA",
"hgvs_p": "p.Phe143Asp",
"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": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": null,
"cds_end": null,
"cds_length": 945,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357339.7",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.505+182_505+184delCTTinsAGA",
"hgvs_p": null,
"intron_rank": 5,
"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": 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": 6,
"exon_rank_end": null,
"feature": "ENST00000313771.10",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.844_846delCTTinsAGA",
"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": 920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000484444.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.288_290delCTTinsAGA",
"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": 5,
"exon_rank_end": null,
"feature": "ENST00000488877.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.426_428delCTTinsAGA",
"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": 978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479522.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.258+182_258+184delCTTinsAGA",
"hgvs_p": null,
"intron_rank": 3,
"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": 3627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492756.7",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "n.396+182_396+184delCTTinsAGA",
"hgvs_p": null,
"intron_rank": 4,
"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": "R",
"aa_end": null,
"aa_length": 366,
"aa_ref": "L",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1101,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696776.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.628_630delCTTinsAGA",
"hgvs_p": "p.Leu210Arg",
"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": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16484,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1089,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690268.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.616_618delCTTinsAGA",
"hgvs_p": "p.Leu206Arg",
"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": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1053,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410956.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.580_582delCTTinsAGA",
"hgvs_p": "p.Leu194Arg",
"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": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1053,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477270.6",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.580_582delCTTinsAGA",
"hgvs_p": "p.Leu194Arg",
"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": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 614,
"cds_end": null,
"cds_length": 663,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152872.4",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_690611.1",
"strand": true,
"transcript": "NM_152872.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 219,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 717,
"cds_end": null,
"cds_length": 660,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697035.1",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513059.1",
"strand": true,
"transcript": "ENST00000697035.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 614,
"cds_end": null,
"cds_length": 594,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320619.2",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.535_537delCTTinsAGA",
"hgvs_p": "p.Leu179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307548.1",
"strand": true,
"transcript": "NM_001320619.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "L",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6615,
"cdna_start": 3533,
"cds_end": null,
"cds_length": 1170,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539764.3",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.697_699delCTTinsAGA",
"hgvs_p": "p.Leu233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538066.1",
"strand": true,
"transcript": "XM_011539764.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12996,
"cdna_start": 9914,
"cds_end": null,
"cds_length": 1089,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006717819.4",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.616_618delCTTinsAGA",
"hgvs_p": "p.Leu206Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717882.1",
"strand": true,
"transcript": "XM_006717819.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1089,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539766.3",
"gene_hgnc_id": 11920,
"gene_symbol": "FAS",
"hgvs_c": "c.616_618delCTTinsAGA",
"hgvs_p": "p.Leu206Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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