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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: 2-202942929-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=202942929&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 202942929,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024744.17",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "NM_024744.17",
"protein_id": "NP_079020.13",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438828.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024744.17"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000438828.4",
"protein_id": "ENSP00000414644.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024744.17",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438828.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000402905.7",
"protein_id": "ENSP00000384006.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402905.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000444724.5",
"protein_id": "ENSP00000416812.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 309,
"cds_start": 268,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.1-9630T>C",
"hgvs_p": null,
"transcript": "ENST00000434998.5",
"protein_id": "ENSP00000415948.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434998.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "n.178T>C",
"hgvs_p": null,
"transcript": "ENST00000422368.5",
"protein_id": "ENSP00000392274.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422368.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "NM_001104586.4",
"protein_id": "NP_001098056.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104586.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "NM_001322427.3",
"protein_id": "NP_001309356.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322427.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "NM_001322428.3",
"protein_id": "NP_001309357.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322428.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000877496.1",
"protein_id": "ENSP00000547555.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877496.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000877497.1",
"protein_id": "ENSP00000547556.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877497.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000877498.1",
"protein_id": "ENSP00000547557.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877498.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000919375.1",
"protein_id": "ENSP00000589434.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919375.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000943229.1",
"protein_id": "ENSP00000613288.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 725,
"cds_start": 268,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943229.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.232T>C",
"hgvs_p": "p.Tyr78His",
"transcript": "NM_001322429.3",
"protein_id": "NP_001309358.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 713,
"cds_start": 232,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322429.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000414857.5",
"protein_id": "ENSP00000391617.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 130,
"cds_start": 268,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414857.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000443740.5",
"protein_id": "ENSP00000387785.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 94,
"cds_start": 268,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443740.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.178T>C",
"hgvs_p": "p.Tyr60His",
"transcript": "ENST00000431787.5",
"protein_id": "ENSP00000395276.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 91,
"cds_start": 178,
"cds_end": null,
"cds_length": 278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431787.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "XM_047445855.1",
"protein_id": "XP_047301811.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 458,
"cds_start": 268,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445855.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "XM_047445856.1",
"protein_id": "XP_047301812.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 405,
"cds_start": 268,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.-40T>C",
"hgvs_p": null,
"transcript": "NM_001352676.2",
"protein_id": "NP_001339605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"hgvs_c": "c.-454T>C",
"hgvs_p": null,
"transcript": "NM_001352678.2",
"protein_id": "NP_001339607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352678.2"
},
{
"aa_ref": null,
"aa_alt": null,
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"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445120.5"
}
],
"gene_symbol": "CARF",
"gene_hgnc_id": 14435,
"dbsnp": "rs2058302212",
"frequency_reference_population": 0.0000013681481,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136815,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42891255021095276,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.311,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.355,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024744.17",
"gene_symbol": "CARF",
"hgnc_id": 14435,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000477723.1",
"gene_symbol": "WDR12",
"hgnc_id": 14098,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.243-17461A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}