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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: 3-33864074-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33864074&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33864074,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001162429.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2189C>T",
"hgvs_p": "p.Ser730Leu",
"transcript": "NM_013374.6",
"protein_id": "NP_037506.2",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 868,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307296.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013374.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2189C>T",
"hgvs_p": "p.Ser730Leu",
"transcript": "ENST00000307296.8",
"protein_id": "ENSP00000307387.3",
"transcript_support_level": 1,
"aa_start": 730,
"aa_end": null,
"aa_length": 868,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013374.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307296.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ser735Leu",
"transcript": "ENST00000457054.6",
"protein_id": "ENSP00000411825.2",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 873,
"cds_start": 2204,
"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": "ENST00000457054.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2309C>T",
"hgvs_p": "p.Ser770Leu",
"transcript": "ENST00000965906.1",
"protein_id": "ENSP00000635965.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 908,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965906.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2294C>T",
"hgvs_p": "p.Ser765Leu",
"transcript": "ENST00000965908.1",
"protein_id": "ENSP00000635967.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 903,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965908.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ser735Leu",
"transcript": "NM_001162429.3",
"protein_id": "NP_001155901.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 873,
"cds_start": 2204,
"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": "NM_001162429.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2186C>T",
"hgvs_p": "p.Ser729Leu",
"transcript": "ENST00000866273.1",
"protein_id": "ENSP00000536332.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 867,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866273.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ser726Leu",
"transcript": "ENST00000965903.1",
"protein_id": "ENSP00000635962.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 864,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965903.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2171C>T",
"hgvs_p": "p.Ser724Leu",
"transcript": "ENST00000965907.1",
"protein_id": "ENSP00000635966.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 862,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965907.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Ser721Leu",
"transcript": "ENST00000965905.1",
"protein_id": "ENSP00000635964.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 859,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965905.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2081C>T",
"hgvs_p": "p.Ser694Leu",
"transcript": "ENST00000866274.1",
"protein_id": "ENSP00000536333.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 832,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866274.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.2072C>T",
"hgvs_p": "p.Ser691Leu",
"transcript": "ENST00000866275.1",
"protein_id": "ENSP00000536334.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 829,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866275.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.1940C>T",
"hgvs_p": "p.Ser647Leu",
"transcript": "ENST00000965904.1",
"protein_id": "ENSP00000635963.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 785,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965904.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Ser545Leu",
"transcript": "XM_011533252.2",
"protein_id": "XP_011531554.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 683,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533252.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Ser545Leu",
"transcript": "XM_047447042.1",
"protein_id": "XP_047302998.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 683,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.851C>T",
"hgvs_p": null,
"transcript": "ENST00000465122.5",
"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": "retained_intron",
"feature": "ENST00000465122.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.179C>T",
"hgvs_p": null,
"transcript": "ENST00000473593.1",
"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": "ENST00000473593.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.712C>T",
"hgvs_p": null,
"transcript": "ENST00000489869.1",
"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": "ENST00000489869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.*1419C>T",
"hgvs_p": null,
"transcript": "ENST00000648706.1",
"protein_id": "ENSP00000497537.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.*1419C>T",
"hgvs_p": null,
"transcript": "ENST00000648706.1",
"protein_id": "ENSP00000497537.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648706.1"
}
],
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"dbsnp": "rs1127732",
"frequency_reference_population": 0.17798358,
"hom_count_reference_population": 29772,
"allele_count_reference_population": 287006,
"gnomad_exomes_af": 0.177422,
"gnomad_genomes_af": 0.18337,
"gnomad_exomes_ac": 259103,
"gnomad_genomes_ac": 27903,
"gnomad_exomes_homalt": 26818,
"gnomad_genomes_homalt": 2954,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0024302303791046143,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.1048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.001,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001162429.3",
"gene_symbol": "PDCD6IP",
"hgnc_id": 8766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ser735Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}