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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: 19-36006491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36006491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36006491,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039876.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "NM_001039876.3",
"protein_id": "NP_001034965.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 404,
"cds_start": 799,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324444.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039876.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000324444.9",
"protein_id": "ENSP00000316130.3",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 404,
"cds_start": 799,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039876.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324444.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000340477.9",
"protein_id": "ENSP00000343152.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 291,
"cds_start": 460,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340477.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000872005.1",
"protein_id": "ENSP00000542064.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 434,
"cds_start": 799,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872005.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Trp",
"transcript": "ENST00000921832.1",
"protein_id": "ENSP00000591891.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 401,
"cds_start": 790,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921832.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Trp",
"transcript": "ENST00000921836.1",
"protein_id": "ENSP00000591895.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 400,
"cds_start": 787,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921836.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262Trp",
"transcript": "ENST00000872000.1",
"protein_id": "ENSP00000542059.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 399,
"cds_start": 784,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872000.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000952118.1",
"protein_id": "ENSP00000622177.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 397,
"cds_start": 799,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952118.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000872011.1",
"protein_id": "ENSP00000542070.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 395,
"cds_start": 799,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Trp",
"transcript": "ENST00000871996.1",
"protein_id": "ENSP00000542055.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 366,
"cds_start": 685,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871996.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Trp",
"transcript": "ENST00000872003.1",
"protein_id": "ENSP00000542062.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 356,
"cds_start": 655,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872003.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000872008.1",
"protein_id": "ENSP00000542067.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 351,
"cds_start": 640,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872008.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Trp",
"transcript": "ENST00000871995.1",
"protein_id": "ENSP00000542054.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 339,
"cds_start": 604,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871995.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202Trp",
"transcript": "ENST00000872002.1",
"protein_id": "ENSP00000542061.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 330,
"cds_start": 604,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872002.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001297735.3",
"protein_id": "NP_001284664.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 291,
"cds_start": 460,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297735.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Trp",
"transcript": "XM_047438344.1",
"protein_id": "XP_047294300.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 356,
"cds_start": 655,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438344.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Trp",
"transcript": "XM_047438345.1",
"protein_id": "XP_047294301.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 324,
"cds_start": 559,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438345.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"transcript": "XM_047438347.1",
"protein_id": "XP_047294303.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 276,
"cds_start": 415,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438347.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Trp",
"transcript": "XM_047438350.1",
"protein_id": "XP_047294306.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 211,
"cds_start": 220,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.688+111C>T",
"hgvs_p": null,
"transcript": "ENST00000490730.1",
"protein_id": "ENSP00000422716.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.688+111C>T",
"hgvs_p": null,
"transcript": "ENST00000872007.1",
"protein_id": "ENSP00000542066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.618+259C>T",
"hgvs_p": null,
"transcript": "ENST00000871998.1",
"protein_id": "ENSP00000542057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871998.1"
},
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"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003393232822418213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.904,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001039876.3",
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}