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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: 8-17274932-ATT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17274932&ref=ATT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "VPS37A",
"hgnc_id": 24928,
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_152415.3",
"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": "8",
"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": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152415.3",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324849.9",
"protein_coding": true,
"protein_id": "NP_689628.2",
"strand": true,
"transcript": "NM_152415.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324849.9",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152415.3",
"protein_coding": true,
"protein_id": "ENSP00000318629.4",
"strand": true,
"transcript": "ENST00000324849.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1307,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1119,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521829.5",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.541_543delATTinsTTC",
"hgvs_p": "p.Ile181Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429680.1",
"strand": true,
"transcript": "ENST00000521829.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 433,
"aa_ref": "I",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1302,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967262.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.724_726delATTinsTTC",
"hgvs_p": "p.Ile242Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637321.1",
"strand": true,
"transcript": "ENST00000967262.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 402,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1209,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967265.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637324.1",
"strand": true,
"transcript": "ENST00000967265.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363173.2",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350102.1",
"strand": true,
"transcript": "NM_001363173.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880479.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550538.1",
"strand": true,
"transcript": "ENST00000880479.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880482.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550541.1",
"strand": true,
"transcript": "ENST00000880482.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880486.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550545.1",
"strand": true,
"transcript": "ENST00000880486.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967263.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637322.1",
"strand": true,
"transcript": "ENST00000967263.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 397,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1194,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967264.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637323.1",
"strand": true,
"transcript": "ENST00000967264.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 391,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1176,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363167.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350096.1",
"strand": true,
"transcript": "NM_001363167.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 391,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1176,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880480.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550539.1",
"strand": true,
"transcript": "ENST00000880480.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 391,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1176,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880487.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550546.1",
"strand": true,
"transcript": "ENST00000880487.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 391,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1176,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967268.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637327.1",
"strand": true,
"transcript": "ENST00000967268.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 384,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1155,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967269.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637328.1",
"strand": true,
"transcript": "ENST00000967269.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 374,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1125,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967270.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.616_618delATTinsTTC",
"hgvs_p": "p.Ile206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637329.1",
"strand": true,
"transcript": "ENST00000967270.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 372,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4444,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1119,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145152.2",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.541_543delATTinsTTC",
"hgvs_p": "p.Ile181Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138624.1",
"strand": true,
"transcript": "NM_001145152.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 366,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1101,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880485.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.541_543delATTinsTTC",
"hgvs_p": "p.Ile181Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550544.1",
"strand": true,
"transcript": "ENST00000880485.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 349,
"aa_ref": "I",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1050,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880481.1",
"gene_hgnc_id": 24928,
"gene_symbol": "VPS37A",
"hgvs_c": "c.472_474delATTinsTTC",
"hgvs_p": "p.Ile158Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550540.1",
"strand": true,
"transcript": "ENST00000880481.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 349,
"aa_ref": "I",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1050,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880484.1",
"gene_hgnc_id": 24928,
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