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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: 7-96189371-T-TCATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96189371&ref=T&alt=TCATA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 96189371,
"ref": "T",
"alt": "TCATA",
"effect": "frameshift_variant",
"transcript": "ENST00000265631.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs",
"transcript": "NM_014251.3",
"protein_id": "NP_055066.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 675,
"cds_start": 855,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000265631.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs",
"transcript": "ENST00000265631.10",
"protein_id": "ENSP00000265631.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 675,
"cds_start": 855,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014251.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs",
"transcript": "ENST00000416240.6",
"protein_id": "ENSP00000400101.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 676,
"cds_start": 855,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs",
"transcript": "NM_001160210.2",
"protein_id": "NP_001153682.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 676,
"cds_start": 855,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.990_993dupTATG",
"hgvs_p": "p.Thr332fs",
"transcript": "XM_017011663.2",
"protein_id": "XP_016867152.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 721,
"cds_start": 993,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.885_888dupTATG",
"hgvs_p": "p.Thr297fs",
"transcript": "XM_047419712.1",
"protein_id": "XP_047275668.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 686,
"cds_start": 888,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.990_993dupTATG",
"hgvs_p": "p.Thr332fs",
"transcript": "XM_047419713.1",
"protein_id": "XP_047275669.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 491,
"cds_start": 993,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs",
"transcript": "XM_047419714.1",
"protein_id": "XP_047275670.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 445,
"cds_start": 855,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "MY?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.-1_3dupTATG",
"hgvs_p": "p.Thr2fs",
"transcript": "XM_047419715.1",
"protein_id": "XP_047275671.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 391,
"cds_start": 3,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.5_8dupTATG",
"hgvs_p": null,
"transcript": "ENST00000484495.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.878_881dupTATG",
"hgvs_p": null,
"transcript": "NR_027662.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"dbsnp": "rs80338720",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.472,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265631.10",
"gene_symbol": "SLC25A13",
"hgnc_id": 10983,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.852_855dupTATG",
"hgvs_p": "p.Thr286fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}