← 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: 5-175968018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=175968018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 175968018,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032361.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "NM_032361.4",
"protein_id": "NP_115737.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 351,
"cds_start": 191,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265097.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032361.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000265097.9",
"protein_id": "ENSP00000265097.5",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 351,
"cds_start": 191,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032361.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265097.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000513482.1",
"protein_id": "ENSP00000422243.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 327,
"cds_start": 191,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513482.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000928778.1",
"protein_id": "ENSP00000598837.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 366,
"cds_start": 191,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928778.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000909314.1",
"protein_id": "ENSP00000579373.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 351,
"cds_start": 191,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909314.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000909315.1",
"protein_id": "ENSP00000579374.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 351,
"cds_start": 191,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909315.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000928777.1",
"protein_id": "ENSP00000598836.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 351,
"cds_start": 191,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928777.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000928779.1",
"protein_id": "ENSP00000598838.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 334,
"cds_start": 191,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928779.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "NM_001376902.1",
"protein_id": "NP_001363831.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 327,
"cds_start": 191,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376902.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000928780.1",
"protein_id": "ENSP00000598839.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 280,
"cds_start": 191,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928780.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000960460.1",
"protein_id": "ENSP00000630519.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 229,
"cds_start": 191,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960460.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn",
"transcript": "ENST00000628318.2",
"protein_id": "ENSP00000487428.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 105,
"cds_start": 191,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628318.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.171+20G>A",
"hgvs_p": null,
"transcript": "ENST00000928781.1",
"protein_id": "ENSP00000598840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"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": "ENST00000928781.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "c.75-6584G>A",
"hgvs_p": null,
"transcript": "ENST00000514861.5",
"protein_id": "ENSP00000425039.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514861.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "n.191G>A",
"hgvs_p": null,
"transcript": "ENST00000513006.1",
"protein_id": "ENSP00000421082.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000513006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296908",
"gene_hgnc_id": null,
"hgvs_c": "n.170C>T",
"hgvs_p": null,
"transcript": "ENST00000743509.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000743509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296908",
"gene_hgnc_id": null,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000743510.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000743510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "n.48-751G>A",
"hgvs_p": null,
"transcript": "ENST00000511062.5",
"protein_id": "ENSP00000427029.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000511062.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"hgvs_c": "n.*231-751G>A",
"hgvs_p": null,
"transcript": "ENST00000514250.1",
"protein_id": "ENSP00000427267.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000514250.1"
}
],
"gene_symbol": "THOC3",
"gene_hgnc_id": 19072,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.85923e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8488567471504211,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.4654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.691,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032361.4",
"gene_symbol": "THOC3",
"hgnc_id": 19072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Ser64Asn"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000743509.1",
"gene_symbol": "ENSG00000296908",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.170C>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
}