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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: 7-43877447-GAC-AAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43877447&ref=GAC&alt=AAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "URGCP",
"hgnc_id": 30890,
"hgvs_c": "c.2014_2016delGTCinsATT",
"hgvs_p": "p.Val672Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001077663.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "URGCP-MRPS24",
"hgnc_id": 49188,
"hgvs_c": "c.175+4210_175+4212delGTCinsATT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001204871.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 931,
"aa_ref": "V",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077663.3",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.2014_2016delGTCinsATT",
"hgvs_p": "p.Val672Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453200.6",
"protein_coding": true,
"protein_id": "NP_001071131.1",
"strand": false,
"transcript": "NM_001077663.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 931,
"aa_ref": "V",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453200.6",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.2014_2016delGTCinsATT",
"hgvs_p": "p.Val672Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077663.3",
"protein_coding": true,
"protein_id": "ENSP00000396918.1",
"strand": false,
"transcript": "ENST00000453200.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 922,
"aa_ref": "V",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402306.7",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1987_1989delGTCinsATT",
"hgvs_p": "p.Val663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384955.3",
"strand": false,
"transcript": "ENST00000402306.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 4124,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336086.10",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1885_1887delGTCinsATT",
"hgvs_p": "p.Val629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336872.6",
"strand": false,
"transcript": "ENST00000336086.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443736.5",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1885_1887delGTCinsATT",
"hgvs_p": "p.Val629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392136.1",
"strand": false,
"transcript": "ENST00000443736.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000603700.1",
"gene_hgnc_id": 49188,
"gene_symbol": "URGCP-MRPS24",
"hgvs_c": "c.175+4210_175+4212delGTCinsATT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473871.1",
"strand": false,
"transcript": "ENST00000603700.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000497914.5",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "n.2805_2807delGTCinsATT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497914.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 939,
"aa_ref": "V",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926966.1",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.2038_2040delGTCinsATT",
"hgvs_p": "p.Val680Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597025.1",
"strand": false,
"transcript": "ENST00000926966.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 922,
"aa_ref": "V",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017920.5",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1987_1989delGTCinsATT",
"hgvs_p": "p.Val663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060390.3",
"strand": false,
"transcript": "NM_017920.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 914,
"aa_ref": "V",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969119.1",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1963_1965delGTCinsATT",
"hgvs_p": "p.Val655Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639178.1",
"strand": false,
"transcript": "ENST00000969119.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077664.3",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1885_1887delGTCinsATT",
"hgvs_p": "p.Val629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001071132.1",
"strand": false,
"transcript": "NM_001077664.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290075.2",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1885_1887delGTCinsATT",
"hgvs_p": "p.Val629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277004.1",
"strand": false,
"transcript": "NM_001290075.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290076.2",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1885_1887delGTCinsATT",
"hgvs_p": "p.Val629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277005.1",
"strand": false,
"transcript": "NM_001290076.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 818,
"aa_ref": "V",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865240.1",
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"hgvs_c": "c.1675_1677delGTCinsATT",
"hgvs_p": "p.Val559Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535299.1",
"strand": false,
"transcript": "ENST00000865240.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204871.2",
"gene_hgnc_id": 49188,
"gene_symbol": "URGCP-MRPS24",
"hgvs_c": "c.175+4210_175+4212delGTCinsATT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191800.1",
"strand": false,
"transcript": "NM_001204871.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30890,
"gene_symbol": "URGCP",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.019,
"pos": 43877447,
"ref": "GAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001077663.3"
}
]
}