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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: 13-23332904-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23332904&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SACS",
"hgnc_id": 10519,
"hgvs_c": "c.10999C>T",
"hgvs_p": "p.Arg3667Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001437336.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_score": -16,
"allele_count_reference_population": 226,
"alphamissense_prediction": null,
"alphamissense_score": 0.4202,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "13",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Spastic paraplegia,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05884996056556702,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "R",
"aa_start": 3658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15635,
"cdna_start": 11561,
"cds_end": null,
"cds_length": 13740,
"cds_start": 10972,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014363.6",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10972C>T",
"hgvs_p": "p.Arg3658Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382292.9",
"protein_coding": true,
"protein_id": "NP_055178.3",
"strand": false,
"transcript": "NM_014363.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "R",
"aa_start": 3658,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15635,
"cdna_start": 11561,
"cds_end": null,
"cds_length": 13740,
"cds_start": 10972,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000382292.9",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10972C>T",
"hgvs_p": "p.Arg3658Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014363.6",
"protein_coding": true,
"protein_id": "ENSP00000371729.3",
"strand": false,
"transcript": "ENST00000382292.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 832,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455470.6",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.2432-3420C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406565.2",
"strand": false,
"transcript": "ENST00000455470.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "R",
"aa_start": 3667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15662,
"cdna_start": 11588,
"cds_end": null,
"cds_length": 13767,
"cds_start": 10999,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001437336.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10999C>T",
"hgvs_p": "p.Arg3667Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424265.1",
"strand": false,
"transcript": "NM_001437336.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "R",
"aa_start": 3667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15712,
"cdna_start": 11638,
"cds_end": null,
"cds_length": 13767,
"cds_start": 10999,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000682944.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10999C>T",
"hgvs_p": "p.Arg3667Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507173.1",
"strand": false,
"transcript": "ENST00000682944.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4432,
"aa_ref": "R",
"aa_start": 3511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15095,
"cdna_start": 11021,
"cds_end": null,
"cds_length": 13299,
"cds_start": 10531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001278055.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10531C>T",
"hgvs_p": "p.Arg3511Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264984.1",
"strand": false,
"transcript": "NM_001278055.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 3829,
"aa_ref": "R",
"aa_start": 2908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15134,
"cdna_start": 11056,
"cds_end": null,
"cds_length": 11490,
"cds_start": 8722,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000402364.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.8722C>T",
"hgvs_p": "p.Arg2908Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385844.1",
"strand": false,
"transcript": "ENST00000402364.1",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4596,
"aa_ref": "R",
"aa_start": 3675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15134,
"cdna_start": 11060,
"cds_end": null,
"cds_length": 13791,
"cds_start": 11023,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430254.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.11023C>T",
"hgvs_p": "p.Arg3675Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286210.1",
"strand": false,
"transcript": "XM_047430254.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "R",
"aa_start": 3667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15883,
"cdna_start": 11809,
"cds_end": null,
"cds_length": 13767,
"cds_start": 10999,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024449337.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10999C>T",
"hgvs_p": "p.Arg3667Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305105.1",
"strand": false,
"transcript": "XM_024449337.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4587,
"aa_ref": "R",
"aa_start": 3666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15107,
"cdna_start": 11033,
"cds_end": null,
"cds_length": 13764,
"cds_start": 10996,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430255.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10996C>T",
"hgvs_p": "p.Arg3666Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286211.1",
"strand": false,
"transcript": "XM_047430255.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4585,
"aa_ref": "R",
"aa_start": 3664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15210,
"cdna_start": 11136,
"cds_end": null,
"cds_length": 13758,
"cds_start": 10990,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535039.3",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10990C>T",
"hgvs_p": "p.Arg3664Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533341.1",
"strand": false,
"transcript": "XM_011535039.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 4579,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15856,
"cdna_start": 11782,
"cds_end": null,
"cds_length": 13740,
"cds_start": 10972,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430256.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10972C>T",
"hgvs_p": "p.Arg3658Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286212.1",
"strand": false,
"transcript": "XM_047430256.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15183,
"cdna_start": 11109,
"cds_end": null,
"cds_length": 13731,
"cds_start": 10963,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017020539.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10963C>T",
"hgvs_p": "p.Arg3655Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876028.1",
"strand": false,
"transcript": "XM_017020539.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 4539,
"aa_ref": "R",
"aa_start": 3618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15515,
"cdna_start": 11441,
"cds_end": null,
"cds_length": 13620,
"cds_start": 10852,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430257.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10852C>T",
"hgvs_p": "p.Arg3618Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286213.1",
"strand": false,
"transcript": "XM_047430257.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15736,
"cdna_start": 11662,
"cds_end": null,
"cds_length": 13620,
"cds_start": 10852,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430258.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10852C>T",
"hgvs_p": "p.Arg3618Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286214.1",
"strand": false,
"transcript": "XM_047430258.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4538,
"aa_ref": "R",
"aa_start": 3617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14960,
"cdna_start": 10886,
"cds_end": null,
"cds_length": 13617,
"cds_start": 10849,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047430259.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10849C>T",
"hgvs_p": "p.Arg3617Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286215.1",
"strand": false,
"transcript": "XM_047430259.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 4536,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15063,
"cdna_start": 10989,
"cds_end": null,
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"cds_start": 10843,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430260.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10843C>T",
"hgvs_p": "p.Arg3615Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286216.1",
"strand": false,
"transcript": "XM_047430260.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 15488,
"cdna_start": 11414,
"cds_end": null,
"cds_length": 13593,
"cds_start": 10825,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430261.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10825C>T",
"hgvs_p": "p.Arg3609Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286217.1",
"strand": false,
"transcript": "XM_047430261.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15709,
"cdna_start": 11635,
"cds_end": null,
"cds_length": 13593,
"cds_start": 10825,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430262.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10825C>T",
"hgvs_p": "p.Arg3609Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286218.1",
"strand": false,
"transcript": "XM_047430262.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 4527,
"aa_ref": "R",
"aa_start": 3606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15036,
"cdna_start": 10962,
"cds_end": null,
"cds_length": 13584,
"cds_start": 10816,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047430263.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.10816C>T",
"hgvs_p": "p.Arg3606Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286219.1",
"strand": false,
"transcript": "XM_047430263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7009,
"cdna_start": null,
"cds_end": null,
"cds_length": 6513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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