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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: 19-36005343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36005343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001039876.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 385,
"alphamissense_prediction": null,
"alphamissense_score": 0.0798,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008342236280441284,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1215,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001039876.3",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"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": "Q",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1215,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324444.9",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"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": "Q",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 724,
"cds_end": null,
"cds_length": 876,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000340477.9",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"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": "Q",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1052,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872005.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Arg351Gln",
"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": "Q",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1206,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921832.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"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": "Q",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1203,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921836.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317Gln",
"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": "Q",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1200,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872000.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316Gln",
"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": "Q",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1194,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952118.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321Gln",
"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": "Q",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1188,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872011.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312Gln",
"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": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1101,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871996.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283Gln",
"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": "Q",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1071,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872003.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"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": "Q",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1056,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872008.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Arg268Gln",
"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": "Q",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1020,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871995.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Arg256Gln",
"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": "Q",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 861,
"cds_end": null,
"cds_length": 993,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872002.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247Gln",
"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": "Q",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 834,
"cds_end": null,
"cds_length": 966,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871998.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542057.1",
"strand": false,
"transcript": "ENST00000871998.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 825,
"cds_end": null,
"cds_length": 957,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921837.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591896.1",
"strand": false,
"transcript": "ENST00000921837.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 819,
"cds_end": null,
"cds_length": 951,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872001.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542060.1",
"strand": false,
"transcript": "ENST00000872001.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 312,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 770,
"cds_end": null,
"cds_length": 939,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921839.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591898.1",
"strand": false,
"transcript": "ENST00000921839.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 755,
"cds_end": null,
"cds_length": 876,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001297735.3",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"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": "Q",
"aa_end": null,
"aa_length": 283,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 987,
"cdna_start": 707,
"cds_end": null,
"cds_length": 852,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872006.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542065.1",
"strand": false,
"transcript": "ENST00000872006.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 716,
"cds_end": null,
"cds_length": 822,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871997.1",
"gene_hgnc_id": 26703,
"gene_symbol": "SYNE4",
"hgvs_c": "c.569G>A",
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{
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],
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided",
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]
}