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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: 7-90262016-CGT-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90262016&ref=CGT&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CFAP69",
"hgnc_id": 26107,
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001039706.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"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": "S",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2826,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001039706.3",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389297.8",
"protein_coding": true,
"protein_id": "NP_001034795.2",
"strand": true,
"transcript": "NM_001039706.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2826,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389297.8",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039706.3",
"protein_coding": true,
"protein_id": "ENSP00000373948.4",
"strand": true,
"transcript": "ENST00000389297.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2772,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160138.2",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153610.1",
"strand": true,
"transcript": "NM_001160138.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 526,
"cds_end": null,
"cds_length": 2772,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497910.5",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419549.1",
"strand": true,
"transcript": "ENST00000497910.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 900,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2703,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949775.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619834.1",
"strand": true,
"transcript": "ENST00000949775.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2628,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363438.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350367.1",
"strand": true,
"transcript": "NM_001363438.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 580,
"cds_end": null,
"cds_length": 2523,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949772.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619831.1",
"strand": true,
"transcript": "ENST00000949772.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 829,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 564,
"cds_end": null,
"cds_length": 2490,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867385.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537444.1",
"strand": true,
"transcript": "ENST00000867385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 515,
"cds_end": null,
"cds_length": 2469,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949774.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619833.1",
"strand": true,
"transcript": "ENST00000949774.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2433,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867384.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537443.1",
"strand": true,
"transcript": "ENST00000867384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 514,
"aa_ref": "R",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1545,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457170.6",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.136_138delCGTinsTCA",
"hgvs_p": "p.Arg46Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392365.2",
"strand": true,
"transcript": "ENST00000457170.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 959,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5981,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2880,
"cds_start": 316,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516577.3",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514879.1",
"strand": true,
"transcript": "XM_011516577.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 8038,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2832,
"cds_start": 316,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516578.3",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514880.1",
"strand": true,
"transcript": "XM_011516578.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5927,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2826,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012624.2",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868113.1",
"strand": true,
"transcript": "XM_017012624.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 924,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5876,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2775,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012625.2",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868114.1",
"strand": true,
"transcript": "XM_017012625.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2682,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012628.2",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868117.1",
"strand": true,
"transcript": "XM_017012628.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 877,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2634,
"cds_start": 316,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "XM_047420845.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047276801.1",
"strand": true,
"transcript": "XM_047420845.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 316,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420846.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047276802.1",
"strand": true,
"transcript": "XM_047420846.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 5678,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2577,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012632.2",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868121.1",
"strand": true,
"transcript": "XM_017012632.2",
"transcript_support_level": null
},
{
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"aa_length": 811,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2436,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420849.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
"hgvs_p": "p.Arg106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276805.1",
"strand": true,
"transcript": "XM_047420849.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 800,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 567,
"cds_end": null,
"cds_length": 2403,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420850.1",
"gene_hgnc_id": 26107,
"gene_symbol": "CFAP69",
"hgvs_c": "c.316_318delCGTinsTCA",
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