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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: 5-119509176-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119509176&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSD17B4",
"hgnc_id": 5213,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Asn482Asp",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001199291.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3,PP5_Moderate",
"acmg_score": 11,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.6176,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Bifunctional peroxisomal enzyme deficiency,Perrault syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8149195313453674,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 736,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000414.4",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000510025.7",
"protein_coding": true,
"protein_id": "NP_000405.1",
"strand": true,
"transcript": "NM_000414.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 736,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000510025.7",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000414.4",
"protein_coding": true,
"protein_id": "ENSP00000424940.3",
"strand": true,
"transcript": "ENST00000510025.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": null,
"cds_end": null,
"cds_length": 2142,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509514.6",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1334-34A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426272.2",
"strand": true,
"transcript": "ENST00000509514.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001199291.3",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Asn482Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186220.1",
"strand": true,
"transcript": "NM_001199291.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "N",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000414835.7",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Asn482Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411960.3",
"strand": true,
"transcript": "ENST00000414835.7",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 733,
"aa_ref": "N",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001374497.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1360A>G",
"hgvs_p": "p.Asn454Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361426.1",
"strand": true,
"transcript": "NM_001374497.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "N",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001199292.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Asn439Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186221.1",
"strand": true,
"transcript": "NM_001199292.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "N",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000515320.5",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Asn439Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424613.1",
"strand": true,
"transcript": "ENST00000515320.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 712,
"aa_ref": "N",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001292027.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Asn433Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278956.1",
"strand": true,
"transcript": "NM_001292027.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 712,
"aa_ref": "N",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001374498.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Asn433Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361427.1",
"strand": true,
"transcript": "NM_001374498.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 712,
"aa_ref": "N",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682996.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Asn433Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507792.1",
"strand": true,
"transcript": "ENST00000682996.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 711,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000646058.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493579.1",
"strand": true,
"transcript": "ENST00000646058.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 627,
"aa_ref": "N",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1042,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001374499.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1042A>G",
"hgvs_p": "p.Asn348Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361428.1",
"strand": true,
"transcript": "NM_001374499.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 599,
"aa_ref": "N",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1800,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001374501.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361430.1",
"strand": true,
"transcript": "NM_001374501.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 599,
"aa_ref": "N",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1800,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001374502.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361431.1",
"strand": true,
"transcript": "NM_001374502.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 599,
"aa_ref": "N",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1800,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001374503.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361432.1",
"strand": true,
"transcript": "NM_001374503.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 599,
"aa_ref": "N",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1800,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000513628.5",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425993.1",
"strand": true,
"transcript": "ENST00000513628.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 596,
"aa_ref": "N",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1791,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001292028.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Asn317Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278957.1",
"strand": true,
"transcript": "NM_001292028.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 589,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001374500.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361429.1",
"strand": true,
"transcript": "NM_001374500.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 589,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1770,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645099.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496091.1",
"strand": true,
"transcript": "ENST00000645099.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 484,
"aa_ref": "N",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1455,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 15,
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