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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: 17-31863380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31863380&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 31863380,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018428.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Met591Ile",
"transcript": "NM_018428.3",
"protein_id": "NP_060898.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 597,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261708.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018428.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Met591Ile",
"transcript": "ENST00000261708.9",
"protein_id": "ENSP00000261708.4",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 597,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018428.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261708.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Met590Ile",
"transcript": "ENST00000899559.1",
"protein_id": "ENSP00000569618.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 596,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899559.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Met590Ile",
"transcript": "ENST00000940126.1",
"protein_id": "ENSP00000610185.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 596,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940126.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Met589Ile",
"transcript": "ENST00000899561.1",
"protein_id": "ENSP00000569620.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 595,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899561.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1725G>A",
"hgvs_p": "p.Met575Ile",
"transcript": "ENST00000940129.1",
"protein_id": "ENSP00000610188.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 581,
"cds_start": 1725,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940129.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Met571Ile",
"transcript": "ENST00000899560.1",
"protein_id": "ENSP00000569619.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 577,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899560.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Met531Ile",
"transcript": "ENST00000899562.1",
"protein_id": "ENSP00000569621.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 537,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899562.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1455G>A",
"hgvs_p": "p.Met485Ile",
"transcript": "ENST00000940128.1",
"protein_id": "ENSP00000610187.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 491,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940128.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"transcript": "ENST00000940127.1",
"protein_id": "ENSP00000610186.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 374,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940127.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.1410G>A",
"hgvs_p": "p.Met470Ile",
"transcript": "XM_047436390.1",
"protein_id": "XP_047292346.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 476,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000581012.6",
"protein_id": "ENSP00000462135.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581012.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.*116G>A",
"hgvs_p": null,
"transcript": "ENST00000579459.1",
"protein_id": "ENSP00000464599.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": null,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "c.*116G>A",
"hgvs_p": null,
"transcript": "XM_011524997.4",
"protein_id": "XP_011523299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524997.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "n.2138G>A",
"hgvs_p": null,
"transcript": "ENST00000477128.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000477128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"hgvs_c": "n.663G>A",
"hgvs_p": null,
"transcript": "ENST00000484661.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000484661.1"
}
],
"gene_symbol": "UTP6",
"gene_hgnc_id": 18279,
"dbsnp": "rs1380334913",
"frequency_reference_population": 0.0000055769133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410494,
"gnomad_genomes_af": 0.0000197182,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10166111588478088,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.2116,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.286,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018428.3",
"gene_symbol": "UTP6",
"hgnc_id": 18279,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Met591Ile"
}
],
"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
}