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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: 14-60152940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60152940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60152940,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016029.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "NM_016029.4",
"protein_id": "NP_057113.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 339,
"cds_start": 632,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557185.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016029.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "ENST00000557185.6",
"protein_id": "ENSP00000451882.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 339,
"cds_start": 632,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016029.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557185.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"transcript": "ENST00000536410.6",
"protein_id": "ENSP00000442993.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 289,
"cds_start": 482,
"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": "ENST00000536410.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000554101.5",
"protein_id": "ENSP00000450899.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 398,
"cds_start": 614,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554101.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "ENST00000216500.9",
"protein_id": "ENSP00000216500.5",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 339,
"cds_start": 632,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216500.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"transcript": "NM_001322280.2",
"protein_id": "NP_001309209.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 289,
"cds_start": 482,
"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": "NM_001322280.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160Gln",
"transcript": "ENST00000931888.1",
"protein_id": "ENSP00000601947.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 288,
"cds_start": 479,
"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": "ENST00000931888.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000557751.5",
"protein_id": "ENSP00000452026.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 211,
"cds_start": 233,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557751.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71Gln",
"transcript": "NM_001322281.2",
"protein_id": "NP_001309210.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 199,
"cds_start": 212,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322281.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "c.2566-15752C>T",
"hgvs_p": null,
"transcript": "ENST00000406949.5",
"protein_id": "ENSP00000385201.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": null,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406949.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.393+1019G>A",
"hgvs_p": null,
"transcript": "NM_001322282.2",
"protein_id": "NP_001309211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322282.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "c.390+1019G>A",
"hgvs_p": null,
"transcript": "ENST00000557137.1",
"protein_id": "ENSP00000451321.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "n.286G>A",
"hgvs_p": null,
"transcript": "ENST00000553986.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000553986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"hgvs_c": "n.673G>A",
"hgvs_p": null,
"transcript": "ENST00000556502.1",
"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": "ENST00000556502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCNX4",
"gene_hgnc_id": 20349,
"hgvs_c": "n.83+5533C>T",
"hgvs_p": null,
"transcript": "ENST00000553898.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000553898.1"
}
],
"gene_symbol": "DHRS7",
"gene_hgnc_id": 21524,
"dbsnp": "rs766634765",
"frequency_reference_population": 0.000052663992,
"hom_count_reference_population": 0,
"allele_count_reference_population": 85,
"gnomad_exomes_af": 0.0000533614,
"gnomad_genomes_af": 0.0000459698,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14515668153762817,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1202,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.328,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000044388808587566,
"dbscsnv_ada_prediction": "Benign",
"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_016029.4",
"gene_symbol": "DHRS7",
"hgnc_id": 21524,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000406949.5",
"gene_symbol": "PCNX4",
"hgnc_id": 20349,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2566-15752C>T",
"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
}