← 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: 17-7075164-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7075164&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7075164,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182906.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"transcript": "NM_001330070.2",
"protein_id": "NP_001316999.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416562.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330070.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"transcript": "ENST00000416562.7",
"protein_id": "ENSP00000414938.2",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330070.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416562.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"transcript": "ENST00000254868.8",
"protein_id": "ENSP00000254868.4",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 316,
"cds_start": 841,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254868.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"transcript": "ENST00000571664.1",
"protein_id": "ENSP00000460252.1",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 292,
"cds_start": 769,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.*390G>A",
"hgvs_p": null,
"transcript": "ENST00000576617.5",
"protein_id": "ENSP00000458728.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576617.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "ENST00000874075.1",
"protein_id": "ENSP00000544134.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 319,
"cds_start": 850,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874075.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"transcript": "NM_182906.4",
"protein_id": "NP_878910.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 316,
"cds_start": 841,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182906.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Asp280Asn",
"transcript": "ENST00000943482.1",
"protein_id": "ENSP00000613541.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 315,
"cds_start": 838,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943482.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Asp277Asn",
"transcript": "ENST00000943483.1",
"protein_id": "ENSP00000613542.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 312,
"cds_start": 829,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943483.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"transcript": "NM_006344.4",
"protein_id": "NP_006335.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 292,
"cds_start": 769,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006344.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"transcript": "ENST00000874073.1",
"protein_id": "ENSP00000544132.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 292,
"cds_start": 769,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874073.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"transcript": "ENST00000874072.1",
"protein_id": "ENSP00000544131.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874072.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Asp254Asn",
"transcript": "ENST00000943481.1",
"protein_id": "ENSP00000613540.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 289,
"cds_start": 760,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943481.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Asp253Asn",
"transcript": "ENST00000874076.1",
"protein_id": "ENSP00000544135.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 288,
"cds_start": 757,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874076.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Asp250Asn",
"transcript": "ENST00000874074.1",
"protein_id": "ENSP00000544133.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 285,
"cds_start": 748,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874074.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Gly124Glu",
"transcript": "ENST00000576549.6",
"protein_id": "ENSP00000461800.2",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 135,
"cds_start": 371,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576549.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "XM_011523613.2",
"protein_id": "XP_011521915.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 319,
"cds_start": 850,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523613.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Asp280Asn",
"transcript": "XM_011523615.2",
"protein_id": "XP_011521917.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 315,
"cds_start": 838,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523615.2"
}
],
"gene_symbol": "CLEC10A",
"gene_hgnc_id": 16916,
"dbsnp": "rs375550026",
"frequency_reference_population": 0.00001683424,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.000011022,
"gnomad_genomes_af": 0.0000722581,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7480121850967407,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.4988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.895,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182906.4",
"gene_symbol": "CLEC10A",
"hgnc_id": 16916,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn"
}
],
"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
}