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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: X-68717235-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=68717235&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 68717235,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142503.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.321G>T",
"hgvs_p": "p.Glu107Asp",
"transcript": "NM_001142503.3",
"protein_id": "NP_001135975.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 1103,
"cds_start": 321,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374599.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142503.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.321G>T",
"hgvs_p": "p.Glu107Asp",
"transcript": "ENST00000374599.8",
"protein_id": "ENSP00000363727.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 1103,
"cds_start": 321,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142503.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374599.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.81G>T",
"hgvs_p": "p.Glu27Asp",
"transcript": "ENST00000252336.10",
"protein_id": "ENSP00000252336.6",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 1023,
"cds_start": 81,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252336.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.81G>T",
"hgvs_p": "p.Glu27Asp",
"transcript": "ENST00000374597.3",
"protein_id": "ENSP00000363725.3",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 1023,
"cds_start": 81,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374597.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "n.*80G>T",
"hgvs_p": null,
"transcript": "ENST00000523864.5",
"protein_id": "ENSP00000428031.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523864.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "n.*80G>T",
"hgvs_p": null,
"transcript": "ENST00000523864.5",
"protein_id": "ENSP00000428031.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523864.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.81G>T",
"hgvs_p": "p.Glu27Asp",
"transcript": "NM_001142504.3",
"protein_id": "NP_001135976.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1023,
"cds_start": 81,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142504.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.81G>T",
"hgvs_p": "p.Glu27Asp",
"transcript": "NM_014725.5",
"protein_id": "NP_055540.2",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1023,
"cds_start": 81,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014725.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.351G>T",
"hgvs_p": "p.Glu117Asp",
"transcript": "XM_011531069.4",
"protein_id": "XP_011529371.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1113,
"cds_start": 351,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531069.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.333G>T",
"hgvs_p": "p.Glu111Asp",
"transcript": "XM_005262314.5",
"protein_id": "XP_005262371.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1107,
"cds_start": 333,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262314.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.303G>T",
"hgvs_p": "p.Glu101Asp",
"transcript": "XM_047442679.1",
"protein_id": "XP_047298635.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1097,
"cds_start": 303,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442679.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"hgvs_c": "c.93G>T",
"hgvs_p": "p.Glu31Asp",
"transcript": "XM_005262315.4",
"protein_id": "XP_005262372.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1027,
"cds_start": 93,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262315.4"
}
],
"gene_symbol": "STARD8",
"gene_hgnc_id": 19161,
"dbsnp": "rs375613703",
"frequency_reference_population": 0.000020025014,
"hom_count_reference_population": 3,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000211641,
"gnomad_genomes_af": 0.00000894831,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02672213315963745,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1036,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.173,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001142503.3",
"gene_symbol": "STARD8",
"hgnc_id": 19161,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.321G>T",
"hgvs_p": "p.Glu107Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}