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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: 11-119090230-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119090230&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HMBS",
"hgnc_id": 4982,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"inheritance_mode": "AD,SD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000190.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Acute intermittent porphyria",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1086,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000190.4",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652429.1",
"protein_coding": true,
"protein_id": "NP_000181.2",
"strand": true,
"transcript": "NM_000190.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1086,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000652429.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000190.4",
"protein_coding": true,
"protein_id": "ENSP00000498786.1",
"strand": true,
"transcript": "ENST00000652429.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392841.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376584.1",
"strand": true,
"transcript": "ENST00000392841.1",
"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": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545621.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "n.*358C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444849.1",
"strand": true,
"transcript": "ENST00000545621.5",
"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": 1282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545621.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "n.*358C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444849.1",
"strand": true,
"transcript": "ENST00000545621.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1077,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425056.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411985.1",
"strand": true,
"transcript": "NM_001425056.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1077,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933410.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603469.1",
"strand": true,
"transcript": "ENST00000933410.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 355,
"aa_ref": "Q",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1068,
"cds_start": 445,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425057.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Gln149*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411986.1",
"strand": true,
"transcript": "NM_001425057.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 355,
"aa_ref": "Q",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1068,
"cds_start": 445,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000442944.7",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Gln149*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392041.3",
"strand": true,
"transcript": "ENST00000442944.7",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1047,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425058.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411987.1",
"strand": true,
"transcript": "NM_001425058.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1047,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933407.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603466.1",
"strand": true,
"transcript": "ENST00000933407.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 346,
"aa_ref": "Q",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1041,
"cds_start": 463,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877118.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Gln155*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547177.1",
"strand": true,
"transcript": "ENST00000877118.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001024382.2",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001019553.1",
"strand": true,
"transcript": "NM_001024382.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425052.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411981.1",
"strand": true,
"transcript": "NM_001425052.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425053.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411982.1",
"strand": true,
"transcript": "NM_001425053.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001425054.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411983.1",
"strand": true,
"transcript": "NM_001425054.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000537841.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444730.1",
"strand": true,
"transcript": "ENST00000537841.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1035,
"cds_start": 412,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000648374.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497255.1",
"strand": true,
"transcript": "ENST00000648374.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 343,
"aa_ref": "Q",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1032,
"cds_start": 409,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001425059.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Gln137*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411988.1",
"strand": true,
"transcript": "NM_001425059.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 338,
"aa_ref": "Q",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1017,
"cds_start": 394,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000650101.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Gln132*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496970.1",
"strand": true,
"transcript": "ENST00000650101.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 337,
"aa_ref": "Q",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1014,
"cds_start": 391,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959929.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Gln131*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629988.1",
"strand": true,
"transcript": "ENST00000959929.1",
"transcript_support_level": null
},
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