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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-139750121-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=139750121&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP11C",
"hgnc_id": 13554,
"hgvs_c": "c.2741A>T",
"hgvs_p": "p.Tyr914Phe",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_173694.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2004,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.762489914894104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001353812.2",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682941.1",
"protein_coding": true,
"protein_id": "NP_001340741.2",
"strand": false,
"transcript": "NM_001353812.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000682941.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353812.2",
"protein_coding": true,
"protein_id": "ENSP00000507250.1",
"strand": false,
"transcript": "ENST00000682941.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "Y",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6115,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000327569.7",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2741A>T",
"hgvs_p": "p.Tyr914Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332756.3",
"strand": false,
"transcript": "ENST00000327569.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Y",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000361648.6",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2741A>T",
"hgvs_p": "p.Tyr914Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355165.2",
"strand": false,
"transcript": "ENST00000361648.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "Y",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6069,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_173694.5",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2741A>T",
"hgvs_p": "p.Tyr914Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775965.3",
"strand": false,
"transcript": "NM_173694.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7005,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001353811.2",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340740.2",
"strand": false,
"transcript": "NM_001353811.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Y",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001010986.3",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2741A>T",
"hgvs_p": "p.Tyr914Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001010986.2",
"strand": false,
"transcript": "NM_001010986.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1116,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 3262,
"cds_end": null,
"cds_length": 3351,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001353810.2",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340739.2",
"strand": false,
"transcript": "NM_001353810.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Y",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6924,
"cdna_start": 3751,
"cds_end": null,
"cds_length": 3342,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000370557.5",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2723A>T",
"hgvs_p": "p.Tyr908Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359588.1",
"strand": false,
"transcript": "ENST00000370557.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "Y",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6965,
"cdna_start": 3690,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000422228.2",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2660A>T",
"hgvs_p": "p.Tyr887Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394573.2",
"strand": false,
"transcript": "ENST00000422228.2",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Y",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 3462,
"cds_start": 2804,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442016.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2804A>T",
"hgvs_p": "p.Tyr935Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297972.1",
"strand": false,
"transcript": "XM_047442016.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "Y",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2804,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442017.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2804A>T",
"hgvs_p": "p.Tyr935Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297973.1",
"strand": false,
"transcript": "XM_047442017.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "Y",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2804,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442018.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2804A>T",
"hgvs_p": "p.Tyr935Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297974.1",
"strand": false,
"transcript": "XM_047442018.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 3262,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047442019.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297975.1",
"strand": false,
"transcript": "XM_047442019.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047442020.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297976.1",
"strand": false,
"transcript": "XM_047442020.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047442021.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297977.1",
"strand": false,
"transcript": "XM_047442021.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2804,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442022.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2804A>T",
"hgvs_p": "p.Tyr935Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297978.1",
"strand": false,
"transcript": "XM_047442022.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 4357,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442023.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2714A>T",
"hgvs_p": "p.Tyr905Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297979.1",
"strand": false,
"transcript": "XM_047442023.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1116,
"aa_ref": "Y",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3351,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047442024.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2732A>T",
"hgvs_p": "p.Tyr911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297980.1",
"strand": false,
"transcript": "XM_047442024.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "Y",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 2721,
"cds_end": null,
"cds_length": 3327,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047442025.1",
"gene_hgnc_id": 13554,
"gene_symbol": "ATP11C",
"hgvs_c": "c.2669A>T",
"hgvs_p": "p.Tyr890Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297981.1",
"strand": false,
"transcript": "XM_047442025.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "Y",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 3671,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 28,
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}