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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: 1-7784383-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7784383&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7784383,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000377532.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-225+7G>T",
"hgvs_p": null,
"transcript": "NM_001377275.1",
"protein_id": "NP_001364204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": "ENST00000377532.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-225+7G>T",
"hgvs_p": null,
"transcript": "ENST00000377532.8",
"protein_id": "ENSP00000366755.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": "NM_001377275.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-225+7G>T",
"hgvs_p": null,
"transcript": "ENST00000377541.5",
"protein_id": "ENSP00000366764.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "NM_016831.4",
"protein_id": "NP_058515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "NM_001289861.2",
"protein_id": "NP_001276790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "NM_001289863.3",
"protein_id": "NP_001276792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-1328G>T",
"hgvs_p": null,
"transcript": "NM_001289864.3",
"protein_id": "NP_001276793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-397G>T",
"hgvs_p": null,
"transcript": "XM_047433434.1",
"protein_id": "XP_047289390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
"hgvs_p": null,
"transcript": "XM_047433435.1",
"protein_id": "XP_047289391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "XM_047433436.1",
"protein_id": "XP_047289392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
"hgvs_p": null,
"transcript": "XM_047433437.1",
"protein_id": "XP_047289393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1209,
"cds_start": -4,
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"cds_length": 3630,
"cdna_start": null,
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"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "XM_047433438.1",
"protein_id": "XP_047289394.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1209,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
"hgvs_p": null,
"transcript": "XM_047433440.1",
"protein_id": "XP_047289396.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
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"transcript": "XM_047433442.1",
"protein_id": "XP_047289398.1",
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},
{
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"strand": true,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "PER3",
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"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "XM_047433443.1",
"protein_id": "XP_047289399.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-397G>T",
"hgvs_p": null,
"transcript": "XM_047433446.1",
"protein_id": "XP_047289402.1",
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},
{
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"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "XM_047433447.1",
"protein_id": "XP_047289403.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
"hgvs_p": null,
"transcript": "XM_047433449.1",
"protein_id": "XP_047289405.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "XM_047433451.1",
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},
{
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],
"exon_rank": 1,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
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"hgvs_p": null,
"transcript": "XM_047433453.1",
"protein_id": "XP_047289409.1",
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},
{
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "PER3",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-397G>T",
"hgvs_p": null,
"transcript": "XM_047433455.1",
"protein_id": "XP_047289411.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PER3",
"gene_hgnc_id": 8847,
"hgvs_c": "c.-495G>T",
"hgvs_p": null,
"transcript": "XM_047433457.1",
"protein_id": "XP_047289413.1",
"transcript_support_level": null,
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"cds_start": -4,
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}
],
"gene_symbol": "PER3",
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"dbsnp": "rs2797687",
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"hom_count_reference_population": 4280,
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"gnomad_exomes_af": 0.11985,
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"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 33100,
"gnomad_exomes_homalt": 3,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03799999877810478,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.862,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": 0.0000785892088628007,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377532.8",
"gene_symbol": "PER3",
"hgnc_id": 8847,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-225+7G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}