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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: 3-33864073-TCA-CTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33864073&ref=TCA&alt=CTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PDCD6IP",
"hgnc_id": 8766,
"hgvs_c": "c.2203_2205delTCAinsCTC",
"hgvs_p": "p.Ser735Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001162429.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 868,
"aa_ref": "S",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013374.6",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2188_2190delTCAinsCTC",
"hgvs_p": "p.Ser730Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307296.8",
"protein_coding": true,
"protein_id": "NP_037506.2",
"strand": true,
"transcript": "NM_013374.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 868,
"aa_ref": "S",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307296.8",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2188_2190delTCAinsCTC",
"hgvs_p": "p.Ser730Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013374.6",
"protein_coding": true,
"protein_id": "ENSP00000307387.3",
"strand": true,
"transcript": "ENST00000307296.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457054.6",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2203_2205delTCAinsCTC",
"hgvs_p": "p.Ser735Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411825.2",
"strand": true,
"transcript": "ENST00000457054.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 908,
"aa_ref": "S",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2308,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965906.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2308_2310delTCAinsCTC",
"hgvs_p": "p.Ser770Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635965.1",
"strand": true,
"transcript": "ENST00000965906.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 903,
"aa_ref": "S",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965908.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2293_2295delTCAinsCTC",
"hgvs_p": "p.Ser765Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635967.1",
"strand": true,
"transcript": "ENST00000965908.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001162429.3",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2203_2205delTCAinsCTC",
"hgvs_p": "p.Ser735Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155901.1",
"strand": true,
"transcript": "NM_001162429.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "S",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2185,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866273.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2185_2187delTCAinsCTC",
"hgvs_p": "p.Ser729Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536332.1",
"strand": true,
"transcript": "ENST00000866273.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 864,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2176,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965903.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2176_2178delTCAinsCTC",
"hgvs_p": "p.Ser726Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635962.1",
"strand": true,
"transcript": "ENST00000965903.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "S",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965907.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2170_2172delTCAinsCTC",
"hgvs_p": "p.Ser724Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635966.1",
"strand": true,
"transcript": "ENST00000965907.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 859,
"aa_ref": "S",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965905.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2161_2163delTCAinsCTC",
"hgvs_p": "p.Ser721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635964.1",
"strand": true,
"transcript": "ENST00000965905.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 832,
"aa_ref": "S",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866274.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2080_2082delTCAinsCTC",
"hgvs_p": "p.Ser694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536333.1",
"strand": true,
"transcript": "ENST00000866274.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 829,
"aa_ref": "S",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2071,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866275.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.2071_2073delTCAinsCTC",
"hgvs_p": "p.Ser691Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536334.1",
"strand": true,
"transcript": "ENST00000866275.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 785,
"aa_ref": "S",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2358,
"cds_start": 1939,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965904.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.1939_1941delTCAinsCTC",
"hgvs_p": "p.Ser647Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635963.1",
"strand": true,
"transcript": "ENST00000965904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6167,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533252.2",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.1633_1635delTCAinsCTC",
"hgvs_p": "p.Ser545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531554.1",
"strand": true,
"transcript": "XM_011533252.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6039,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447042.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "c.1633_1635delTCAinsCTC",
"hgvs_p": "p.Ser545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302998.1",
"strand": true,
"transcript": "XM_047447042.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000465122.5",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "n.850_852delTCAinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465122.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000473593.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "n.178_180delTCAinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473593.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000489869.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "n.711_713delTCAinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489869.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000648706.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "n.*1418_*1420delTCAinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497537.1",
"strand": true,
"transcript": "ENST00000648706.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000648706.1",
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"hgvs_c": "n.*1418_*1420delTCAinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497537.1",
"strand": true,
"transcript": "ENST00000648706.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8766,
"gene_symbol": "PDCD6IP",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
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"phylop100way_prediction": "Benign",
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"transcript": "NM_001162429.3"
}
]
}