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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: 22-19176205-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19176205&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19176205,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001256534.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Cys287Cys",
"transcript": "NM_005984.5",
"protein_id": "NP_005975.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 311,
"cds_start": 861,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215882.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005984.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Cys287Cys",
"transcript": "ENST00000215882.10",
"protein_id": "ENSP00000215882.5",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 311,
"cds_start": 861,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005984.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215882.10"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.900C>T",
"hgvs_p": "p.Cys300Cys",
"transcript": "ENST00000880508.1",
"protein_id": "ENSP00000550567.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 324,
"cds_start": 900,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880508.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Cys294Cys",
"transcript": "NM_001256534.2",
"protein_id": "NP_001243463.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 318,
"cds_start": 882,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256534.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.870C>T",
"hgvs_p": "p.Cys290Cys",
"transcript": "ENST00000880513.1",
"protein_id": "ENSP00000550572.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 314,
"cds_start": 870,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880513.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.864C>T",
"hgvs_p": "p.Cys288Cys",
"transcript": "ENST00000880511.1",
"protein_id": "ENSP00000550570.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 312,
"cds_start": 864,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880511.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Cys280Cys",
"transcript": "ENST00000880509.1",
"protein_id": "ENSP00000550568.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 304,
"cds_start": 840,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880509.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Cys270Cys",
"transcript": "ENST00000880512.1",
"protein_id": "ENSP00000550571.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 294,
"cds_start": 810,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880512.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Cys267Cys",
"transcript": "ENST00000880510.1",
"protein_id": "ENSP00000550569.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 291,
"cds_start": 801,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880510.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.747C>T",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000923188.1",
"protein_id": "ENSP00000593247.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 273,
"cds_start": 747,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923188.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Cys184Cys",
"transcript": "NM_001287387.2",
"protein_id": "NP_001274316.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 208,
"cds_start": 552,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287387.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Cys184Cys",
"transcript": "ENST00000451283.5",
"protein_id": "ENSP00000401480.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 208,
"cds_start": 552,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451283.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "n.1003C>T",
"hgvs_p": null,
"transcript": "ENST00000470922.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470922.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "n.785C>T",
"hgvs_p": null,
"transcript": "NR_046298.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046298.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01311",
"gene_hgnc_id": 50503,
"hgvs_c": "n.303+4181G>A",
"hgvs_p": null,
"transcript": "ENST00000804544.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000804544.1"
}
],
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"dbsnp": "rs782586427",
"frequency_reference_population": 0.0000054747575,
"hom_count_reference_population": 1,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547476,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.953,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001256534.2",
"gene_symbol": "SLC25A1",
"hgnc_id": 10979,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Cys294Cys"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000804544.1",
"gene_symbol": "LINC01311",
"hgnc_id": 50503,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.303+4181G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}