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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: 5-78015546-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=78015546&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "AP3B1",
"hgnc_id": 566,
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Val999Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_003664.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 11050,
"alphamissense_prediction": null,
"alphamissense_score": 0.0496,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autoinflammatory syndrome,Hermansky-Pudlak syndrome,Hermansky-Pudlak syndrome 2,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007074683904647827,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "V",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2995,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_003664.5",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Val999Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255194.11",
"protein_coding": true,
"protein_id": "NP_003655.3",
"strand": false,
"transcript": "NM_003664.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "V",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2995,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000255194.11",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Val999Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003664.5",
"protein_coding": true,
"protein_id": "ENSP00000255194.7",
"strand": false,
"transcript": "ENST00000255194.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14714,
"cdna_start": 3162,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000519295.7",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Val950Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430597.1",
"strand": false,
"transcript": "ENST00000519295.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "V",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 3140,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2989,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000909857.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2989G>A",
"hgvs_p": "p.Val997Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579916.1",
"strand": false,
"transcript": "ENST00000909857.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 3103,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2986,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000913630.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Val996Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583689.1",
"strand": false,
"transcript": "ENST00000913630.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "V",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2995,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000695511.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Val999Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511974.1",
"strand": false,
"transcript": "ENST00000695511.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "V",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2872,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000959993.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2872G>A",
"hgvs_p": "p.Val958Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630052.1",
"strand": false,
"transcript": "ENST00000959993.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "V",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 3172,
"cds_end": null,
"cds_length": 3156,
"cds_start": 2989,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000695454.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2989G>A",
"hgvs_p": "p.Val997Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511922.1",
"strand": false,
"transcript": "ENST00000695454.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "V",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 3120,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2860,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000695513.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Val954Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511976.1",
"strand": false,
"transcript": "ENST00000695513.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 3126,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001271769.2",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Val950Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258698.1",
"strand": false,
"transcript": "NM_001271769.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "V",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2956,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2818,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000909858.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2818G>A",
"hgvs_p": "p.Val940Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579917.1",
"strand": false,
"transcript": "ENST00000909858.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2938,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000695453.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Val980Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511921.1",
"strand": false,
"transcript": "ENST00000695453.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 2973,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2815,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000695512.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Val939Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511975.1",
"strand": false,
"transcript": "ENST00000695512.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 3123,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000695455.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Val950Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511923.1",
"strand": false,
"transcript": "ENST00000695455.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 986,
"aa_ref": "V",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2671,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000913631.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Val891Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583690.1",
"strand": false,
"transcript": "ENST00000913631.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 827,
"aa_ref": "V",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2194,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000695450.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511919.1",
"strand": false,
"transcript": "ENST00000695450.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 153,
"aa_ref": "V",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 294,
"cds_end": null,
"cds_length": 462,
"cds_start": 292,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000522901.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Val98Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429228.1",
"strand": false,
"transcript": "ENST00000522901.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1093,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": null,
"cds_end": null,
"cds_length": 3282,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913629.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2993-1G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583688.1",
"strand": false,
"transcript": "ENST00000913629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1055,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 3168,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695515.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2992+5146G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511978.1",
"strand": false,
"transcript": "ENST00000695515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1008,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3833,
"cdna_start": null,
"cds_end": null,
"cds_length": 3027,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695510.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2992+5146G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511973.1",
"strand": false,
"transcript": "ENST00000695510.1",
"transcript_support_level": null
},
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