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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: X-53985131-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53985131&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53985131,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_001184896.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_015107.3",
"protein_id": "NP_055922.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "ENST00000338154.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015107.3"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000338154.11",
"protein_id": "ENSP00000338868.6",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "NM_015107.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338154.11"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "ENST00000357988.9",
"protein_id": "ENSP00000350676.5",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357988.9"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2174dupG",
"hgvs_p": "p.Ser725fs",
"transcript": "ENST00000322659.12",
"protein_id": "ENSP00000319473.8",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 878,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322659.12"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.1514dupG",
"hgvs_p": "p.Ser505fs",
"transcript": "ENST00000443302.5",
"protein_id": "ENSP00000397129.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 658,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443302.5"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "NM_001184896.1",
"protein_id": "NP_001171825.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184896.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000396282.7",
"protein_id": "ENSP00000379578.3",
"transcript_support_level": 5,
"aa_start": 742,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396282.7"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2282dupG",
"hgvs_p": "p.Ser761fs",
"transcript": "ENST00000930625.1",
"protein_id": "ENSP00000600684.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2282,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 5854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930625.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000930624.1",
"protein_id": "ENSP00000600683.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930624.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000874043.1",
"protein_id": "ENSP00000544102.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874043.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000930622.1",
"protein_id": "ENSP00000600681.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930622.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2192dupG",
"hgvs_p": "p.Ser731fs",
"transcript": "ENST00000930623.1",
"protein_id": "ENSP00000600682.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930623.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2030dupG",
"hgvs_p": "p.Ser677fs",
"transcript": "NM_001441096.1",
"protein_id": "NP_001428025.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 984,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441096.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.1922dupG",
"hgvs_p": "p.Ser641fs",
"transcript": "NM_001184897.2",
"protein_id": "NP_001171826.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 948,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184897.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "NM_001441097.1",
"protein_id": "NP_001428026.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 931,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441097.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.1922dupG",
"hgvs_p": "p.Ser641fs",
"transcript": "ENST00000338946.11",
"protein_id": "ENSP00000340051.7",
"transcript_support_level": 2,
"aa_start": 641,
"aa_end": null,
"aa_length": 923,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 5236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338946.11"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2174dupG",
"hgvs_p": "p.Ser725fs",
"transcript": "NM_001184898.2",
"protein_id": "NP_001171827.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 878,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184898.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2030dupG",
"hgvs_p": "p.Ser677fs",
"transcript": "NM_001441098.1",
"protein_id": "NP_001428027.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 830,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441098.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "XM_005261996.2",
"protein_id": "XP_005262053.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261996.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "XM_011530778.2",
"protein_id": "XP_011529080.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530778.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2333dupG",
"hgvs_p": "p.Ser778fs",
"transcript": "XM_047441934.1",
"protein_id": "XP_047297890.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441934.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF8",
"gene_hgnc_id": 20672,
"hgvs_c": "c.2225dupG",
"hgvs_p": "p.Ser742fs",
"transcript": "XM_005261999.2",
"protein_id": "XP_005262056.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2225,
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{
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],
"gene_symbol": "PHF8",
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"dbsnp": "rs1557099144",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.587,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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"effects": [
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],
"inheritance_mode": "XL",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}