← Back to variant description
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: 7-43877115-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43877115&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43877115,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001077663.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser",
"transcript": "NM_001077663.3",
"protein_id": "NP_001071131.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 931,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": "ENST00000453200.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077663.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser",
"transcript": "ENST00000453200.6",
"protein_id": "ENSP00000396918.1",
"transcript_support_level": 1,
"aa_start": 783,
"aa_end": null,
"aa_length": 931,
"cds_start": 2348,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": "NM_001077663.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453200.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Asn774Ser",
"transcript": "ENST00000402306.7",
"protein_id": "ENSP00000384955.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 922,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402306.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "ENST00000336086.10",
"protein_id": "ENSP00000336872.6",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 888,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 4456,
"cdna_end": null,
"cdna_length": 5658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336086.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "ENST00000443736.5",
"protein_id": "ENSP00000392136.1",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 888,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443736.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "URGCP-MRPS24",
"gene_hgnc_id": 49188,
"hgvs_c": "c.175+4544A>G",
"hgvs_p": null,
"transcript": "ENST00000603700.1",
"protein_id": "ENSP00000473871.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "n.3139A>G",
"hgvs_p": null,
"transcript": "ENST00000497914.5",
"protein_id": null,
"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": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497914.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2372A>G",
"hgvs_p": "p.Asn791Ser",
"transcript": "ENST00000926966.1",
"protein_id": "ENSP00000597025.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 939,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926966.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Asn774Ser",
"transcript": "NM_017920.5",
"protein_id": "NP_060390.3",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 922,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017920.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2297A>G",
"hgvs_p": "p.Asn766Ser",
"transcript": "ENST00000969119.1",
"protein_id": "ENSP00000639178.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 914,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969119.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "NM_001077664.3",
"protein_id": "NP_001071132.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 888,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077664.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "NM_001290075.2",
"protein_id": "NP_001277004.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 888,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290075.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "NM_001290076.2",
"protein_id": "NP_001277005.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 888,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290076.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"hgvs_c": "c.2009A>G",
"hgvs_p": "p.Asn670Ser",
"transcript": "ENST00000865240.1",
"protein_id": "ENSP00000535299.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 818,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865240.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "URGCP-MRPS24",
"gene_hgnc_id": 49188,
"hgvs_c": "c.175+4544A>G",
"hgvs_p": null,
"transcript": "NM_001204871.2",
"protein_id": "NP_001191800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204871.2"
}
],
"gene_symbol": "URGCP",
"gene_hgnc_id": 30890,
"dbsnp": "rs375921236",
"frequency_reference_population": 0.000042129104,
"hom_count_reference_population": 1,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000424111,
"gnomad_genomes_af": 0.0000394203,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12873145937919617,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.973,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001077663.3",
"gene_symbol": "URGCP",
"hgnc_id": 30890,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Asn783Ser"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001204871.2",
"gene_symbol": "URGCP-MRPS24",
"hgnc_id": 49188,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.175+4544A>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
}