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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: 9-128103828-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128103828&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC25A25",
"hgnc_id": 20663,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001330988.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 78,
"alphamissense_prediction": null,
"alphamissense_score": 0.8787,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9351902008056641,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 515,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1548,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330988.2",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373069.10",
"protein_coding": true,
"protein_id": "NP_001317917.1",
"strand": true,
"transcript": "NM_001330988.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 515,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1548,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373069.10",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330988.2",
"protein_coding": true,
"protein_id": "ENSP00000362160.5",
"strand": true,
"transcript": "ENST00000373069.10",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "V",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1512,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373068.6",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Val246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362159.2",
"strand": true,
"transcript": "ENST00000373068.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 501,
"aa_ref": "V",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1506,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373066.9",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Val244Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362157.5",
"strand": true,
"transcript": "ENST00000373066.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1470,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000432073.6",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410053.2",
"strand": true,
"transcript": "ENST00000432073.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 469,
"aa_ref": "V",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1410,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373064.9",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Val212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362155.5",
"strand": true,
"transcript": "ENST00000373064.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 541,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1626,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000682371.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508277.1",
"strand": true,
"transcript": "ENST00000682371.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "V",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1512,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001006641.4",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Val246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006642.1",
"strand": true,
"transcript": "NM_001006641.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 501,
"aa_ref": "V",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1506,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001265614.3",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Val244Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252543.1",
"strand": true,
"transcript": "NM_001265614.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1470,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001006642.4",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006643.1",
"strand": true,
"transcript": "NM_001006642.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1446,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387057.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Val224Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373986.1",
"strand": true,
"transcript": "NM_001387057.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 469,
"aa_ref": "V",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1410,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_052901.5",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Val212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443133.2",
"strand": true,
"transcript": "NM_052901.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1395,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971447.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641506.1",
"strand": true,
"transcript": "ENST00000971447.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 416,
"aa_ref": "V",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1251,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971446.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Val246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641505.1",
"strand": true,
"transcript": "ENST00000971446.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1137,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683206.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506909.1",
"strand": true,
"transcript": "ENST00000683206.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 164,
"aa_ref": "V",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 107,
"cds_end": null,
"cds_length": 495,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000466983.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Val36Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418600.1",
"strand": true,
"transcript": "ENST00000466983.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971448.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "c.588+1347G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641507.1",
"strand": true,
"transcript": "ENST00000971448.1",
"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": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000445012.2",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "n.704G>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": "ENST00000445012.2",
"transcript_support_level": 3
},
{
"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": 3910,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682638.1",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "n.1015G>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": "ENST00000682638.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_049766.3",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "n.737G>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": "NR_049766.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000472769.5",
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419685.1",
"strand": true,
"transcript": "ENST00000472769.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1044520645",
"effect": "missense_variant",
"frequency_reference_population": 0.000048759997,
"gene_hgnc_id": 20663,
"gene_symbol": "SLC25A25",
"gnomad_exomes_ac": 75,
"gnomad_exomes_af": 0.0000518154,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197075,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 128103828,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.83,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001330988.2"
}
]
}