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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: 19-36003424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36003424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36003424,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001039876.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1128G>A",
"hgvs_p": "p.Ala376Ala",
"transcript": "NM_001039876.3",
"protein_id": "NP_001034965.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 404,
"cds_start": 1128,
"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": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1128G>A",
"hgvs_p": "p.Ala376Ala",
"transcript": "ENST00000324444.9",
"protein_id": "ENSP00000316130.3",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 404,
"cds_start": 1128,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.789G>A",
"hgvs_p": "p.Ala263Ala",
"transcript": "ENST00000340477.9",
"protein_id": "ENSP00000343152.5",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 291,
"cds_start": 789,
"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": "V",
"aa_alt": "I",
"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.949G>A",
"hgvs_p": "p.Val317Ile",
"transcript": "ENST00000490730.1",
"protein_id": "ENSP00000422716.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 353,
"cds_start": 949,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Val113Ile",
"transcript": "ENST00000503121.5",
"protein_id": "ENSP00000425550.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 149,
"cds_start": 337,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503121.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1218G>A",
"hgvs_p": "p.Ala406Ala",
"transcript": "ENST00000872005.1",
"protein_id": "ENSP00000542064.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 434,
"cds_start": 1218,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1119G>A",
"hgvs_p": "p.Ala373Ala",
"transcript": "ENST00000921832.1",
"protein_id": "ENSP00000591891.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 401,
"cds_start": 1119,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1116G>A",
"hgvs_p": "p.Ala372Ala",
"transcript": "ENST00000921836.1",
"protein_id": "ENSP00000591895.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 400,
"cds_start": 1116,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1113G>A",
"hgvs_p": "p.Ala371Ala",
"transcript": "ENST00000872000.1",
"protein_id": "ENSP00000542059.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 399,
"cds_start": 1113,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1107G>A",
"hgvs_p": "p.Ala369Ala",
"transcript": "ENST00000952118.1",
"protein_id": "ENSP00000622177.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 397,
"cds_start": 1107,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1101G>A",
"hgvs_p": "p.Ala367Ala",
"transcript": "ENST00000872011.1",
"protein_id": "ENSP00000542070.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 395,
"cds_start": 1101,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1014G>A",
"hgvs_p": "p.Ala338Ala",
"transcript": "ENST00000871996.1",
"protein_id": "ENSP00000542055.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 366,
"cds_start": 1014,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.984G>A",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000872003.1",
"protein_id": "ENSP00000542062.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 356,
"cds_start": 984,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.969G>A",
"hgvs_p": "p.Ala323Ala",
"transcript": "ENST00000872008.1",
"protein_id": "ENSP00000542067.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 351,
"cds_start": 969,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.954G>A",
"hgvs_p": "p.Ala318Ala",
"transcript": "ENST00000872007.1",
"protein_id": "ENSP00000542066.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 346,
"cds_start": 954,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.933G>A",
"hgvs_p": "p.Ala311Ala",
"transcript": "ENST00000871995.1",
"protein_id": "ENSP00000542054.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 339,
"cds_start": 933,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.906G>A",
"hgvs_p": "p.Ala302Ala",
"transcript": "ENST00000872002.1",
"protein_id": "ENSP00000542061.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 330,
"cds_start": 906,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.879G>A",
"hgvs_p": "p.Ala293Ala",
"transcript": "ENST00000871998.1",
"protein_id": "ENSP00000542057.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 321,
"cds_start": 879,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.870G>A",
"hgvs_p": "p.Ala290Ala",
"transcript": "ENST00000921837.1",
"protein_id": "ENSP00000591896.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 318,
"cds_start": 870,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.864G>A",
"hgvs_p": "p.Ala288Ala",
"transcript": "ENST00000872001.1",
"protein_id": "ENSP00000542060.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 316,
"cds_start": 864,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.852G>A",
"hgvs_p": "p.Ala284Ala",
"transcript": "ENST00000921839.1",
"protein_id": "ENSP00000591898.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 312,
"cds_start": 852,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.789G>A",
"hgvs_p": "p.Ala263Ala",
"transcript": "NM_001297735.3",
"protein_id": "NP_001284664.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 291,
"cds_start": 789,
"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"
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"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000335256,
"gnomad_genomes_af": 0.0000591638,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047813355922698975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1092,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.987,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001039876.3",
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1128G>A",
"hgvs_p": "p.Ala376Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}