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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: 19-36006591-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36006591&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001039876.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_score": 9,
"allele_count_reference_population": 1266,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 76,Nonsyndromic genetic hearing loss,SYNE4-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:3 LP:2 US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.3100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 404,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1215,
"cds_start": 699,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001039876.3",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324444.9",
"protein_coding": true,
"protein_id": "NP_001034965.1",
"strand": false,
"transcript": "NM_001039876.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 404,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1215,
"cds_start": 699,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000324444.9",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039876.3",
"protein_coding": true,
"protein_id": "ENSP00000316130.3",
"strand": false,
"transcript": "ENST00000324444.9",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 291,
"aa_ref": "W",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 461,
"cds_end": null,
"cds_length": 876,
"cds_start": 360,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000340477.9",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Trp120*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343152.5",
"strand": false,
"transcript": "ENST00000340477.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 434,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1305,
"cds_start": 699,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872005.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542064.1",
"strand": false,
"transcript": "ENST00000872005.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 401,
"aa_ref": "W",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1206,
"cds_start": 690,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921832.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Trp230*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591891.1",
"strand": false,
"transcript": "ENST00000921832.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 400,
"aa_ref": "W",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1203,
"cds_start": 687,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921836.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Trp229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591895.1",
"strand": false,
"transcript": "ENST00000921836.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 399,
"aa_ref": "W",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1200,
"cds_start": 684,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872000.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Trp228*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542059.1",
"strand": false,
"transcript": "ENST00000872000.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1194,
"cds_start": 699,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952118.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622177.1",
"strand": false,
"transcript": "ENST00000952118.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 395,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1188,
"cds_start": 699,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872011.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542070.1",
"strand": false,
"transcript": "ENST00000872011.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 366,
"aa_ref": "W",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1101,
"cds_start": 585,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871996.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.585G>A",
"hgvs_p": "p.Trp195*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542055.1",
"strand": false,
"transcript": "ENST00000871996.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 356,
"aa_ref": "W",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1071,
"cds_start": 555,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872003.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Trp185*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542062.1",
"strand": false,
"transcript": "ENST00000872003.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 351,
"aa_ref": "W",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1056,
"cds_start": 540,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872008.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Trp180*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542067.1",
"strand": false,
"transcript": "ENST00000872008.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 339,
"aa_ref": "W",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1020,
"cds_start": 504,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871995.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Trp168*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542054.1",
"strand": false,
"transcript": "ENST00000871995.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 330,
"aa_ref": "W",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 625,
"cds_end": null,
"cds_length": 993,
"cds_start": 504,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872002.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Trp168*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542061.1",
"strand": false,
"transcript": "ENST00000872002.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 291,
"aa_ref": "W",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 492,
"cds_end": null,
"cds_length": 876,
"cds_start": 360,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001297735.3",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Trp120*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284664.1",
"strand": false,
"transcript": "NM_001297735.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 356,
"aa_ref": "W",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1071,
"cds_start": 555,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438344.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Trp185*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294300.1",
"strand": false,
"transcript": "XM_047438344.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 324,
"aa_ref": "W",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": 680,
"cds_end": null,
"cds_length": 975,
"cds_start": 459,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438345.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Trp153*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294301.1",
"strand": false,
"transcript": "XM_047438345.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 276,
"aa_ref": "W",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 536,
"cds_end": null,
"cds_length": 831,
"cds_start": 315,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047438347.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.315G>A",
"hgvs_p": "p.Trp105*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294303.1",
"strand": false,
"transcript": "XM_047438347.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 211,
"aa_ref": "W",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 887,
"cdna_start": 341,
"cds_end": null,
"cds_length": 636,
"cds_start": 120,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047438350.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.120G>A",
"hgvs_p": "p.Trp40*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294306.1",
"strand": false,
"transcript": "XM_047438350.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 353,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1175,
"cdna_start": null,
"cds_end": null,
"cds_length": 1063,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490730.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.688+11G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422716.1",
"strand": false,
"transcript": "ENST00000490730.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872007.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.688+11G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
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}
],
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"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 76|Nonsyndromic genetic hearing loss|SYNE4-related disorder",
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}
]
}