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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: 3-9744393-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9744393&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9744393,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "ENST00000383829.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2812dupC",
"hgvs_p": "p.Gln938fs",
"transcript": "NM_001003694.2",
"protein_id": "NP_001003694.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "ENST00000383829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2812dupC",
"hgvs_p": "p.Gln938fs",
"transcript": "ENST00000383829.7",
"protein_id": "ENSP00000373340.2",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "NM_001003694.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2809dupC",
"hgvs_p": "p.Gln937fs",
"transcript": "ENST00000424362.7",
"protein_id": "ENSP00000398863.2",
"transcript_support_level": 1,
"aa_start": 937,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2809dupC",
"hgvs_p": "p.Gln937fs",
"transcript": "ENST00000672515.2",
"protein_id": "ENSP00000499951.2",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2794dupC",
"hgvs_p": "p.Gln932fs",
"transcript": "NM_001437892.1",
"protein_id": "NP_001424821.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2794dupC",
"hgvs_p": "p.Gln932fs",
"transcript": "ENST00000683639.1",
"protein_id": "ENSP00000506903.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "NM_001438342.1",
"protein_id": "NP_001425271.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "ENST00000682208.1",
"protein_id": "ENSP00000508123.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2812dupC",
"hgvs_p": "p.Gln938fs",
"transcript": "ENST00000684199.1",
"protein_id": "ENSP00000506921.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2809dupC",
"hgvs_p": "p.Gln937fs",
"transcript": "NM_001410704.1",
"protein_id": "NP_001397633.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2794dupC",
"hgvs_p": "p.Gln932fs",
"transcript": "NM_004634.3",
"protein_id": "NP_004625.2",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2794dupC",
"hgvs_p": "p.Gln932fs",
"transcript": "ENST00000683743.1",
"protein_id": "ENSP00000507469.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "NM_001319050.2",
"protein_id": "NP_001305979.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "NM_001438343.1",
"protein_id": "NP_001425272.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "ENST00000684333.1",
"protein_id": "ENSP00000508256.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2791dupC",
"hgvs_p": "p.Gln931fs",
"transcript": "ENST00000457855.2",
"protein_id": "ENSP00000410210.2",
"transcript_support_level": 2,
"aa_start": 931,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.496dupC",
"hgvs_p": "p.Gln166fs",
"transcript": "ENST00000684573.1",
"protein_id": "ENSP00000508263.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 459,
"cds_start": 497,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2794dupC",
"hgvs_p": "p.Gln932fs",
"transcript": "XM_047448875.1",
"protein_id": "XP_047304831.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.2812dupC",
"hgvs_p": "p.Gln938fs",
"transcript": "XM_047448876.1",
"protein_id": "XP_047304832.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3491,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.1431dupC",
"hgvs_p": null,
"transcript": "ENST00000497565.3",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.*935dupC",
"hgvs_p": null,
"transcript": "ENST00000673551.2",
"protein_id": "ENSP00000500672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.*299dupC",
"hgvs_p": null,
"transcript": "ENST00000683423.1",
"protein_id": "ENSP00000507659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Inborn genetic diseases,Intellectual developmental disorder with dysmorphic facies and ptosis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:3",
"phenotype_combined": "Inborn genetic diseases|not specified|Intellectual developmental disorder with dysmorphic facies and ptosis|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}