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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: 1-114911577-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=114911577&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 114911577,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369522.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "NM_003176.4",
"protein_id": "NP_003167.2",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "ENST00000369522.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "ENST00000369522.8",
"protein_id": "ENSP00000358535.3",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "NM_003176.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "ENST00000618516.4",
"protein_id": "ENSP00000480997.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "ENST00000613524.4",
"protein_id": "ENSP00000482532.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 951,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "ENST00000455987.5",
"protein_id": "ENSP00000410011.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 791,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "NM_001282541.2",
"protein_id": "NP_001269470.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "ENST00000369518.1",
"protein_id": "ENSP00000358531.1",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "NM_001282542.2",
"protein_id": "NP_001269471.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 951,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "XM_006710859.2",
"protein_id": "XP_006710922.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "XM_017002184.2",
"protein_id": "XP_016857673.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 976,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1470C>G",
"hgvs_p": "p.Asn490Lys",
"transcript": "XM_005271155.5",
"protein_id": "XP_005271212.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 958,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Asn453Lys",
"transcript": "XM_005271156.2",
"protein_id": "XP_005271213.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 921,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.978C>G",
"hgvs_p": "p.Asn326Lys",
"transcript": "XM_017002185.1",
"protein_id": "XP_016857674.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 794,
"cds_start": 978,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "XM_011542037.3",
"protein_id": "XP_011540339.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 787,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Asn297Lys",
"transcript": "XM_011542038.2",
"protein_id": "XP_011540340.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 765,
"cds_start": 891,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys",
"transcript": "XM_011542039.2",
"protein_id": "XP_011540341.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 550,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "n.239C>G",
"hgvs_p": null,
"transcript": "ENST00000482717.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "n.403C>G",
"hgvs_p": null,
"transcript": "ENST00000493377.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"hgvs_c": "n.1704C>G",
"hgvs_p": null,
"transcript": "NR_104211.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYCP1",
"gene_hgnc_id": 11487,
"dbsnp": "rs148948913",
"frequency_reference_population": 7.508691e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.50869e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036618947982788086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.421,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369522.8",
"gene_symbol": "SYCP1",
"hgnc_id": 11487,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Asn508Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}