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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: 1-77926415-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77926415&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "NEXN",
"hgnc_id": 29557,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_144573.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1484,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1CC,Hypertrophic cardiomyopathy 20",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46251654624938965,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 679,
"cds_end": null,
"cds_length": 2028,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_144573.4",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334785.12",
"protein_coding": true,
"protein_id": "NP_653174.3",
"strand": true,
"transcript": "NM_144573.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 679,
"cds_end": null,
"cds_length": 2028,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000334785.12",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144573.4",
"protein_coding": true,
"protein_id": "ENSP00000333938.7",
"strand": true,
"transcript": "ENST00000334785.12",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 575,
"aa_ref": "E",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 190,
"cds_end": null,
"cds_length": 1728,
"cds_start": 188,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000342754.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.188A>G",
"hgvs_p": "p.Glu63Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343928.5",
"strand": true,
"transcript": "ENST00000342754.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 320,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 598,
"cds_end": null,
"cds_length": 964,
"cds_start": 299,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000401035.7",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Glu100Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383814.3",
"strand": true,
"transcript": "ENST00000401035.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 763,
"cds_end": null,
"cds_length": 2028,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951152.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621211.1",
"strand": true,
"transcript": "ENST00000951152.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 611,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1836,
"cds_start": 299,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001172309.2",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Glu100Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165780.1",
"strand": true,
"transcript": "NM_001172309.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 611,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1836,
"cds_start": 299,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000330010.12",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Glu100Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327363.8",
"strand": true,
"transcript": "ENST00000330010.12",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 609,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1830,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902269.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572328.1",
"strand": true,
"transcript": "ENST00000902269.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 597,
"aa_ref": "E",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1794,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927424.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597483.1",
"strand": true,
"transcript": "ENST00000927424.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 545,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1638,
"cds_start": 299,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902267.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Glu100Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572326.1",
"strand": true,
"transcript": "ENST00000902267.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 523,
"aa_ref": "E",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1572,
"cds_start": 257,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902268.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Glu86Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572327.1",
"strand": true,
"transcript": "ENST00000902268.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "E",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1306,
"cds_start": 449,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440324.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Glu150Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411902.1",
"strand": true,
"transcript": "ENST00000440324.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 676,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 679,
"cds_end": null,
"cds_length": 2031,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005271322.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271379.1",
"strand": true,
"transcript": "XM_005271322.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 662,
"aa_ref": "E",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1989,
"cds_start": 449,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005271323.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Glu150Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271380.1",
"strand": true,
"transcript": "XM_005271323.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 612,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1839,
"cds_start": 299,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005271324.6",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.299A>G",
"hgvs_p": "p.Glu100Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271381.1",
"strand": true,
"transcript": "XM_005271324.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "E",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1809,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005271325.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271382.1",
"strand": true,
"transcript": "XM_005271325.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851033.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.448-2901A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521102.1",
"strand": true,
"transcript": "ENST00000851033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005271327.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.448-2901A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271384.1",
"strand": true,
"transcript": "XM_005271327.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464998.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "n.-154A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000464998.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.942742455545391,
"dbsnp": "rs1553238441",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.0000034885409,
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000348854,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hypertrophic cardiomyopathy 20;Dilated cardiomyopathy 1CC|Cardiovascular phenotype",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.528,
"pos": 77926415,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.512,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.7200000286102295,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_144573.4"
}
]
}