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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: 7-24708183-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24708183&ref=C&alt=T&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": "GSDME",
"hgnc_id": 2810,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_004403.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 185,
"alphamissense_prediction": null,
"alphamissense_score": 0.0718,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 5,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005486965179443359,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001127453.2",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645220.1",
"protein_coding": true,
"protein_id": "NP_001120925.1",
"strand": false,
"transcript": "NM_001127453.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000645220.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127453.2",
"protein_coding": true,
"protein_id": "ENSP00000494186.1",
"strand": false,
"transcript": "ENST00000645220.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000342947.9",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339587.3",
"strand": false,
"transcript": "ENST00000342947.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 957,
"cds_end": null,
"cds_length": 999,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000419307.6",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401332.1",
"strand": false,
"transcript": "ENST00000419307.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004403.3",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004394.1",
"strand": false,
"transcript": "NM_004403.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896380.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566439.1",
"strand": false,
"transcript": "ENST00000896380.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924586.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594645.1",
"strand": false,
"transcript": "ENST00000924586.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949624.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619683.1",
"strand": false,
"transcript": "ENST00000949624.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949625.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619684.1",
"strand": false,
"transcript": "ENST00000949625.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 495,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1488,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896379.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566438.1",
"strand": false,
"transcript": "ENST00000896379.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1071,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000414428.2",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413963.2",
"strand": false,
"transcript": "ENST00000414428.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 956,
"cds_end": null,
"cds_length": 999,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001127454.2",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120926.1",
"strand": false,
"transcript": "NM_001127454.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 792,
"cds_end": null,
"cds_length": 999,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438059.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424988.1",
"strand": false,
"transcript": "NM_001438059.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 803,
"cds_end": null,
"cds_length": 999,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409970.6",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387119.1",
"strand": false,
"transcript": "ENST00000409970.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 191,
"aa_ref": "D",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 611,
"cdna_start": 408,
"cds_end": null,
"cds_length": 576,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000446822.6",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398445.1",
"strand": false,
"transcript": "ENST00000446822.6",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 154,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 300,
"cds_end": null,
"cds_length": 465,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000415480.5",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389874.1",
"strand": false,
"transcript": "ENST00000415480.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 496,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1491,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024446670.2",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302438.1",
"strand": false,
"transcript": "XM_024446670.2",
"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": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000469133.1",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "n.436G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469133.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559637.6",
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"hgvs_c": "n.*69G>A",
"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": "ENST00000559637.6",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs148716975",
"effect": "missense_variant",
"frequency_reference_population": 0.00011462007,
"gene_hgnc_id": 2810,
"gene_symbol": "GSDME",
"gnomad_exomes_ac": 162,
"gnomad_exomes_af": 0.000110818,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 23,
"gnomad_genomes_af": 0.000151141,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Autosomal dominant nonsyndromic hearing loss 5|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.511,
"pos": 24708183,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.004,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004403.3"
}
]
}