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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: 19-36003474-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36003474&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36003474,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039876.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"transcript": "NM_001039876.3",
"protein_id": "NP_001034965.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 404,
"cds_start": 1078,
"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": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"transcript": "ENST00000324444.9",
"protein_id": "ENSP00000316130.3",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 404,
"cds_start": 1078,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"transcript": "ENST00000340477.9",
"protein_id": "ENSP00000343152.5",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 291,
"cds_start": 739,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Leu390Phe",
"transcript": "ENST00000872005.1",
"protein_id": "ENSP00000542064.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 434,
"cds_start": 1168,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Leu357Phe",
"transcript": "ENST00000921832.1",
"protein_id": "ENSP00000591891.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 401,
"cds_start": 1069,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Leu356Phe",
"transcript": "ENST00000921836.1",
"protein_id": "ENSP00000591895.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 400,
"cds_start": 1066,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Leu355Phe",
"transcript": "ENST00000872000.1",
"protein_id": "ENSP00000542059.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 399,
"cds_start": 1063,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Leu353Phe",
"transcript": "ENST00000952118.1",
"protein_id": "ENSP00000622177.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 397,
"cds_start": 1057,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Leu351Phe",
"transcript": "ENST00000872011.1",
"protein_id": "ENSP00000542070.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 395,
"cds_start": 1051,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Leu322Phe",
"transcript": "ENST00000871996.1",
"protein_id": "ENSP00000542055.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 366,
"cds_start": 964,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Leu312Phe",
"transcript": "ENST00000872003.1",
"protein_id": "ENSP00000542062.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 356,
"cds_start": 934,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Pro300Leu",
"transcript": "ENST00000490730.1",
"protein_id": "ENSP00000422716.1",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 353,
"cds_start": 899,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Leu307Phe",
"transcript": "ENST00000872008.1",
"protein_id": "ENSP00000542067.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 351,
"cds_start": 919,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Leu302Phe",
"transcript": "ENST00000872007.1",
"protein_id": "ENSP00000542066.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 346,
"cds_start": 904,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Leu295Phe",
"transcript": "ENST00000871995.1",
"protein_id": "ENSP00000542054.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 339,
"cds_start": 883,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.856C>T",
"hgvs_p": "p.Leu286Phe",
"transcript": "ENST00000872002.1",
"protein_id": "ENSP00000542061.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 330,
"cds_start": 856,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Leu277Phe",
"transcript": "ENST00000871998.1",
"protein_id": "ENSP00000542057.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 321,
"cds_start": 829,
"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"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "ENST00000921837.1",
"protein_id": "ENSP00000591896.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 318,
"cds_start": 820,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921837.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Leu272Phe",
"transcript": "ENST00000872001.1",
"protein_id": "ENSP00000542060.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872001.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Leu268Phe",
"transcript": "ENST00000921839.1",
"protein_id": "ENSP00000591898.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 312,
"cds_start": 802,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921839.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Leu247Phe",
"transcript": "NM_001297735.3",
"protein_id": "NP_001284664.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 291,
"cds_start": 739,
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Leu239Phe",
"transcript": "ENST00000872006.1",
"protein_id": "ENSP00000542065.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 283,
"cds_start": 715,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505054.2"
}
],
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"dbsnp": "rs144951904",
"frequency_reference_population": 0.0000024849166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.86063e-7,
"gnomad_genomes_af": 0.0000197213,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09431600570678711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0738,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.207,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001039876.3",
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}