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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: 7-121968055-CTT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=121968055&ref=CTT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PTPRZ1",
"hgnc_id": 9685,
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002851.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "F",
"aa_end": null,
"aa_length": 2315,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8103,
"cdna_start": 568,
"cds_end": null,
"cds_length": 6948,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002851.3",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393386.7",
"protein_coding": true,
"protein_id": "NP_002842.2",
"strand": true,
"transcript": "NM_002851.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2315,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8103,
"cdna_start": 568,
"cds_end": null,
"cds_length": 6948,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393386.7",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002851.3",
"protein_coding": true,
"protein_id": "ENSP00000377047.2",
"strand": true,
"transcript": "ENST00000393386.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 368,
"cds_end": null,
"cds_length": 4347,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449182.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410000.1",
"strand": true,
"transcript": "ENST00000449182.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2354,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7840,
"cdna_start": 402,
"cds_end": null,
"cds_length": 7065,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651863.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498439.1",
"strand": true,
"transcript": "ENST00000651863.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2347,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7822,
"cdna_start": 248,
"cds_end": null,
"cds_length": 7044,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651320.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498388.1",
"strand": true,
"transcript": "ENST00000651320.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2308,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8082,
"cdna_start": 568,
"cds_end": null,
"cds_length": 6927,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369395.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356324.1",
"strand": true,
"transcript": "NM_001369395.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2308,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7866,
"cdna_start": 372,
"cds_end": null,
"cds_length": 6927,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652298.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499137.1",
"strand": true,
"transcript": "ENST00000652298.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2301,
"aa_ref": "L",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8206,
"cdna_start": 671,
"cds_end": null,
"cds_length": 6906,
"cds_start": 187,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369396.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.187_189delCTTinsTTC",
"hgvs_p": "p.Leu63Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356325.1",
"strand": true,
"transcript": "NM_001369396.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2059,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7149,
"cdna_start": 547,
"cds_end": null,
"cds_length": 6180,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650681.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498708.1",
"strand": true,
"transcript": "ENST00000650681.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1908,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6669,
"cdna_start": 563,
"cds_end": null,
"cds_length": 5727,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651390.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498965.1",
"strand": true,
"transcript": "ENST00000651390.1",
"transcript_support_level": null
},
{
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"aa_length": 1908,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6669,
"cdna_start": 563,
"cds_end": null,
"cds_length": 5727,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651842.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499098.1",
"strand": true,
"transcript": "ENST00000651842.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5547,
"cdna_start": 577,
"cds_end": null,
"cds_length": 4542,
"cds_start": 229,
"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000650826.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498356.1",
"strand": true,
"transcript": "ENST00000650826.1",
"transcript_support_level": null
},
{
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"cdna_start": 640,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000651065.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499073.1",
"strand": true,
"transcript": "ENST00000651065.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": 568,
"cds_end": null,
"cds_length": 4464,
"cds_start": 229,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000650728.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499152.1",
"strand": true,
"transcript": "ENST00000650728.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 5523,
"cdna_start": 568,
"cds_end": null,
"cds_length": 4368,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206838.2",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193767.1",
"strand": true,
"transcript": "NM_001206838.2",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5560,
"cdna_start": 604,
"cds_end": null,
"cds_length": 4368,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878583.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548642.1",
"strand": true,
"transcript": "ENST00000878583.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5502,
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"consequences": [
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],
"exon_count": 29,
"exon_rank": null,
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"feature": "NM_001206839.2",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193768.1",
"strand": true,
"transcript": "NM_001206839.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912209.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582268.1",
"strand": true,
"transcript": "ENST00000912209.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 597,
"cds_end": null,
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"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912208.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.229_231delCTTinsTTC",
"hgvs_p": "p.Leu77Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582267.1",
"strand": true,
"transcript": "ENST00000912208.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7924,
"cdna_start": null,
"cds_end": null,
"cds_length": 6768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878584.1",
"gene_hgnc_id": 9685,
"gene_symbol": "PTPRZ1",
"hgvs_c": "c.125-4486_125-4484delCTTinsTTC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548643.1",
"strand": true,
"transcript": "ENST00000878584.1",
"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": 7839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652054.1",
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