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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: 4-105275327-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105275327&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105275327,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001127208.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "NM_001127208.3",
"protein_id": "NP_001120680.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380013.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127208.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "ENST00000380013.9",
"protein_id": "ENSP00000369351.4",
"transcript_support_level": 5,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127208.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380013.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4880G>T",
"hgvs_p": "p.Gly1627Val",
"transcript": "ENST00000513237.5",
"protein_id": "ENSP00000425443.1",
"transcript_support_level": 1,
"aa_start": 1627,
"aa_end": null,
"aa_length": 2023,
"cds_start": 4880,
"cds_end": null,
"cds_length": 6072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513237.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "ENST00000540549.5",
"protein_id": "ENSP00000442788.1",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540549.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "ENST00000950395.1",
"protein_id": "ENSP00000620454.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950395.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "XM_005263082.4",
"protein_id": "XP_005263139.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263082.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "XM_024454102.2",
"protein_id": "XP_024309870.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454102.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val",
"transcript": "XM_024454103.2",
"protein_id": "XP_024309871.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2002,
"cds_start": 4817,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454103.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.4517G>T",
"hgvs_p": "p.Gly1506Val",
"transcript": "XM_006714242.4",
"protein_id": "XP_006714305.1",
"transcript_support_level": null,
"aa_start": 1506,
"aa_end": null,
"aa_length": 1902,
"cds_start": 4517,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714242.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.*1141G>T",
"hgvs_p": null,
"transcript": "ENST00000265149.9",
"protein_id": "ENSP00000265149.5",
"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": "ENST00000265149.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.*1141G>T",
"hgvs_p": null,
"transcript": "ENST00000265149.9",
"protein_id": "ENSP00000265149.5",
"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": "ENST00000265149.9"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.227+77458C>A",
"hgvs_p": null,
"transcript": "ENST00000776423.1",
"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": "ENST00000776423.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.174-16111C>A",
"hgvs_p": null,
"transcript": "ENST00000776424.1",
"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": "ENST00000776424.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.288+59059C>A",
"hgvs_p": null,
"transcript": "ENST00000776425.1",
"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": "ENST00000776425.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.174-16111C>A",
"hgvs_p": null,
"transcript": "ENST00000776426.1",
"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": "ENST00000776426.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.293-16111C>A",
"hgvs_p": null,
"transcript": "ENST00000776427.1",
"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": "ENST00000776427.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.166-14007C>A",
"hgvs_p": null,
"transcript": "ENST00000776428.1",
"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": "ENST00000776428.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.318+59059C>A",
"hgvs_p": null,
"transcript": "NR_126420.1",
"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": "NR_126420.1"
}
],
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"dbsnp": "rs587778702",
"frequency_reference_population": 7.145052e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14505e-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": 0.4341006875038147,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1475,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.158,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001127208.3",
"gene_symbol": "TET2",
"hgnc_id": 25941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4817G>T",
"hgvs_p": "p.Gly1606Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_126420.1",
"gene_symbol": "TET2-AS1",
"hgnc_id": 41125,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.318+59059C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}