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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: 22-32857293-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=32857293&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 32857293,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000362.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP3",
"gene_hgnc_id": 11822,
"hgvs_c": "c.249T>A",
"hgvs_p": "p.His83Gln",
"transcript": "NM_000362.5",
"protein_id": "NP_000353.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 211,
"cds_start": 249,
"cds_end": null,
"cds_length": 636,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": "ENST00000266085.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP3",
"gene_hgnc_id": 11822,
"hgvs_c": "c.249T>A",
"hgvs_p": "p.His83Gln",
"transcript": "ENST00000266085.7",
"protein_id": "ENSP00000266085.5",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 211,
"cds_start": 249,
"cds_end": null,
"cds_length": 636,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": "NM_000362.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "NM_003490.4",
"protein_id": "NP_003481.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": "ENST00000358763.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "ENST00000358763.7",
"protein_id": "ENSP00000351614.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": "NM_003490.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "NM_001369907.1",
"protein_id": "NP_001356836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "NM_001369908.1",
"protein_id": "NP_001356837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "NM_001135774.2",
"protein_id": "NP_001129246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "NM_001369909.1",
"protein_id": "NP_001356838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "NM_001369910.1",
"protein_id": "NP_001356839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "NM_133633.3",
"protein_id": "NP_598344.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "n.225+7622A>T",
"hgvs_p": null,
"transcript": "ENST00000462268.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "XM_011530405.4",
"protein_id": "XP_011528707.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 580,
"cds_start": -4,
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"cds_length": 1743,
"cdna_start": null,
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"cdna_length": 8185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "XM_017028961.3",
"protein_id": "XP_016884450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
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"cds_length": 1743,
"cdna_start": null,
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"cdna_length": 8624,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "XM_017028962.3",
"protein_id": "XP_016884451.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
"hgvs_p": null,
"transcript": "XM_017028963.3",
"protein_id": "XP_016884452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "XM_047441525.1",
"protein_id": "XP_047297481.1",
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},
{
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],
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"exon_count": 15,
"intron_rank": 7,
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"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "XM_047441526.1",
"protein_id": "XP_047297482.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "XM_047441527.1",
"protein_id": "XP_047297483.1",
"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": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYN3",
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"hgvs_c": "c.357+7622A>T",
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"transcript": "XM_011530410.4",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "SYN3",
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"hgvs_c": "c.711+7622A>T",
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"transcript": "XM_047441528.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.711+7622A>T",
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"transcript": "XM_047441529.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYN3",
"gene_hgnc_id": 11496,
"hgvs_c": "c.708+7622A>T",
"hgvs_p": null,
"transcript": "XM_047441530.1",
"protein_id": "XP_047297486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
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"cds_length": 1317,
"cdna_start": null,
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"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TIMP3",
"gene_hgnc_id": 11822,
"dbsnp": "rs9862",
"frequency_reference_population": 0.0000037181771,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000034205,
"gnomad_genomes_af": 0.00000658241,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.845186173915863,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3694,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.554,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000362.5",
"gene_symbol": "TIMP3",
"hgnc_id": 11822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.249T>A",
"hgvs_p": "p.His83Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003490.4",
"gene_symbol": "SYN3",
"hgnc_id": 11496,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.711+7622A>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
}