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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: 3-9366911-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9366911&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9366911,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000452837.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "NM_001114092.2",
"protein_id": "NP_001107564.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000452837.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "ENST00000452837.7",
"protein_id": "ENSP00000395893.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001114092.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "ENST00000515662.6",
"protein_id": "ENSP00000424064.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THUMPD3-AS1",
"gene_hgnc_id": 44478,
"hgvs_c": "n.2876-16845G>T",
"hgvs_p": null,
"transcript": "ENST00000468186.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "NM_015453.3",
"protein_id": "NP_056268.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "ENST00000345094.7",
"protein_id": "ENSP00000339532.3",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "ENST00000419437.5",
"protein_id": "ENSP00000411126.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 122,
"cds_start": 256,
"cds_end": null,
"cds_length": 370,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_005265021.5",
"protein_id": "XP_005265078.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_005265022.5",
"protein_id": "XP_005265079.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_005265023.4",
"protein_id": "XP_005265080.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_006713086.4",
"protein_id": "XP_006713149.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_011533570.3",
"protein_id": "XP_011531872.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 507,
"cds_start": 256,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_017006113.2",
"protein_id": "XP_016861602.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 483,
"cds_start": 256,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_017006114.2",
"protein_id": "XP_016861603.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 483,
"cds_start": 256,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_017006115.3",
"protein_id": "XP_016861604.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 483,
"cds_start": 256,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_017006116.3",
"protein_id": "XP_016861605.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 483,
"cds_start": 256,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn",
"transcript": "XM_047447929.1",
"protein_id": "XP_047303885.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 483,
"cds_start": 256,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THUMPD3",
"gene_hgnc_id": 24493,
"dbsnp": "rs756340606",
"frequency_reference_population": 0.000008241351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000824135,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5368306636810303,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.6228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.21,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000452837.7",
"gene_symbol": "THUMPD3",
"hgnc_id": 24493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.256C>A",
"hgvs_p": "p.His86Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468186.5",
"gene_symbol": "THUMPD3-AS1",
"hgnc_id": 44478,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2876-16845G>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
}