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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: 1-77929344-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77929344&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEXN",
"hgnc_id": 29557,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_144573.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 303,
"alphamissense_prediction": null,
"alphamissense_score": 0.0934,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1CC,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 20,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:6 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.016359150409698486,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2028,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_144573.4",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2028,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000334785.12",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1728,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000342754.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Thr197Arg",
"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": "R",
"aa_end": null,
"aa_length": 320,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 964,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000401035.7",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"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": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 2028,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000951152.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 611,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1836,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172309.2",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"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": "R",
"aa_end": null,
"aa_length": 611,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1836,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000330010.12",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"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": "R",
"aa_end": null,
"aa_length": 609,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1830,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902269.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1794,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927424.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Thr220Arg",
"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": "R",
"aa_end": null,
"aa_length": 545,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1638,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902267.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"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": "R",
"aa_end": null,
"aa_length": 537,
"aa_ref": "T",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1614,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851033.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"intron_rank": null,
"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": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1572,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902268.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Thr220Arg",
"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": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1306,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440324.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Thr284Arg",
"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": "R",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 2031,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005271322.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 662,
"aa_ref": "T",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1989,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005271323.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Thr284Arg",
"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": "R",
"aa_end": null,
"aa_length": 612,
"aa_ref": "T",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1839,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005271324.6",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"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": "R",
"aa_end": null,
"aa_length": 602,
"aa_ref": "T",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1809,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005271325.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Thr298Arg",
"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": "R",
"aa_end": null,
"aa_length": 537,
"aa_ref": "T",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1614,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005271327.5",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"intron_rank": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000464998.1",
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"hgvs_c": "n.353C>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": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200753280",
"effect": "missense_variant",
"frequency_reference_population": 0.00018782195,
"gene_hgnc_id": 29557,
"gene_symbol": "NEXN",
"gnomad_exomes_ac": 279,
"gnomad_exomes_af": 0.000190932,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 24,
"gnomad_genomes_af": 0.000157918,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1CC;Hypertrophic cardiomyopathy 20|not provided|Cardiomyopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.985,
"pos": 77929344,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.271,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_144573.4"
}
]
}