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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: 11-119085006-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119085006&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "HMBS",
"hgnc_id": 4982,
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"inheritance_mode": "AD,SD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_000190.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 5286,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Acute intermittent porphyria,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000190.4",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 361,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000652429.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": 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": 1,
"exon_rank_end": null,
"feature": "ENST00000545621.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "n.-28A>C",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000545901.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "n.126A>C",
"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": "ENST00000545901.5",
"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": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000545621.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "n.-28A>C",
"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": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425056.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933410.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425057.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000442944.7",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": null,
"cds_end": null,
"cds_length": 1047,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425058.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": null,
"cds_end": null,
"cds_length": 1047,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933407.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000877118.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547177.1",
"strand": true,
"transcript": "ENST00000877118.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425052.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-170A>C",
"hgvs_p": null,
"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
},
{
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"aa_end": null,
"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425053.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-146A>C",
"hgvs_p": null,
"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
},
{
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"aa_length": 344,
"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1587,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425054.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-162A>C",
"hgvs_p": null,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000537841.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-170A>C",
"hgvs_p": null,
"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
},
{
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"aa_end": null,
"aa_length": 343,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425059.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411988.1",
"strand": true,
"transcript": "NM_001425059.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1423,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959929.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629988.1",
"strand": true,
"transcript": "ENST00000959929.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1347,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000543090.5",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000445429.1",
"strand": true,
"transcript": "ENST00000543090.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933411.1",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603470.1",
"strand": true,
"transcript": "ENST00000933411.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1385,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001258208.2",
"gene_hgnc_id": 4982,
"gene_symbol": "HMBS",
"hgvs_c": "c.-28A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245137.1",
"strand": true,
"transcript": "NM_001258208.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
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