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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: 4-105275662-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105275662&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105275662,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000380013.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "NM_001127208.3",
"protein_id": "NP_001120680.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5448,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "ENST00000380013.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "ENST00000380013.9",
"protein_id": "ENSP00000369351.4",
"transcript_support_level": 5,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5448,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "NM_001127208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5215G>T",
"hgvs_p": "p.Val1739Leu",
"transcript": "ENST00000513237.5",
"protein_id": "ENSP00000425443.1",
"transcript_support_level": 1,
"aa_start": 1739,
"aa_end": null,
"aa_length": 2023,
"cds_start": 5215,
"cds_end": null,
"cds_length": 6072,
"cdna_start": 6012,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "ENST00000540549.5",
"protein_id": "ENSP00000442788.1",
"transcript_support_level": 1,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 6012,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "XM_005263082.4",
"protein_id": "XP_005263139.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5302,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "XM_024454102.2",
"protein_id": "XP_024309870.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5561,
"cdna_end": null,
"cdna_length": 9702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.5152G>T",
"hgvs_p": "p.Val1718Leu",
"transcript": "XM_024454103.2",
"protein_id": "XP_024309871.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5152,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5556,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.4852G>T",
"hgvs_p": "p.Val1618Leu",
"transcript": "XM_006714242.4",
"protein_id": "XP_006714305.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1902,
"cds_start": 4852,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 5148,
"cdna_end": null,
"cdna_length": 9289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*1476G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*1476G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9588,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.227+77123C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 494,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.174-16446C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.288+58724C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.174-16446C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 349,
"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": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.293-16446C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.166-14342C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 520,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.318+58724C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"dbsnp": "rs142312318",
"frequency_reference_population": 0.0065079164,
"hom_count_reference_population": 35,
"allele_count_reference_population": 10100,
"gnomad_exomes_af": 0.00675177,
"gnomad_genomes_af": 0.00426728,
"gnomad_exomes_ac": 9450,
"gnomad_genomes_ac": 650,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005872994661331177,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.029,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000380013.9",
"gene_symbol": "TET2",
"hgnc_id": 25941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5152G>T",
"hgvs_p": "p.Val1718Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_126420.1",
"gene_symbol": "TET2-AS1",
"hgnc_id": 41125,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.318+58724C>A",
"hgvs_p": null
}
],
"clinvar_disease": "TET2-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2 O:1",
"phenotype_combined": "not specified|not provided|TET2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}