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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: 5-119536458-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119536458&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HSD17B4",
"hgnc_id": 5213,
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Gln702*",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001199291.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Bifunctional peroxisomal enzyme deficiency,Perrault syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 736,
"aa_ref": "Q",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2029,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_000414.4",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2029C>T",
"hgvs_p": "p.Gln677*",
"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": "*",
"aa_end": null,
"aa_length": 736,
"aa_ref": "Q",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2029,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000510025.7",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2029C>T",
"hgvs_p": "p.Gln677*",
"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": "*",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Q",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1960,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000509514.6",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1960C>T",
"hgvs_p": "p.Gln654*",
"intron_rank": null,
"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": "*",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2104,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001199291.3",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Gln702*",
"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": "*",
"aa_end": null,
"aa_length": 761,
"aa_ref": "Q",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2104,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000414835.7",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Gln702*",
"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": "*",
"aa_end": null,
"aa_length": 733,
"aa_ref": "Q",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2020,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001374497.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.Gln674*",
"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": "*",
"aa_end": null,
"aa_length": 718,
"aa_ref": "Q",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1975,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001199292.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Gln659*",
"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": "*",
"aa_end": null,
"aa_length": 718,
"aa_ref": "Q",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1975,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000515320.5",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Gln659*",
"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": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "Q",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1957,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001292027.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1957C>T",
"hgvs_p": "p.Gln653*",
"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": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "Q",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1957,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001374498.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1957C>T",
"hgvs_p": "p.Gln653*",
"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": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "Q",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1957,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000682996.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1957C>T",
"hgvs_p": "p.Gln653*",
"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": "*",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Q",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2136,
"cds_start": 2029,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000646058.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.2029C>T",
"hgvs_p": "p.Gln677*",
"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": "*",
"aa_end": null,
"aa_length": 627,
"aa_ref": "Q",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1702,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001374499.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Gln568*",
"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": "*",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1618,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001374501.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Gln540*",
"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": "*",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 2301,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1618,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001374502.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Gln540*",
"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": "*",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1618,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001374503.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Gln540*",
"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": "*",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1618,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000513628.5",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Gln540*",
"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": "*",
"aa_end": null,
"aa_length": 596,
"aa_ref": "Q",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1609,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001292028.2",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Gln537*",
"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": "*",
"aa_end": null,
"aa_length": 589,
"aa_ref": "Q",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1588,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001374500.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Gln530*",
"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": "*",
"aa_end": null,
"aa_length": 589,
"aa_ref": "Q",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1588,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000645099.1",
"gene_hgnc_id": 5213,
"gene_symbol": "HSD17B4",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Gln530*",
"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": "*",
"aa_end": null,
"aa_length": 484,
"aa_ref": "Q",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1273,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 14,
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