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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-153693083-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153693083&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153693083,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005629.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "NM_005629.4",
"protein_id": "NP_005620.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 635,
"cds_start": 820,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": "ENST00000253122.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005629.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "ENST00000253122.10",
"protein_id": "ENSP00000253122.5",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 635,
"cds_start": 820,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": "NM_005629.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253122.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "ENST00000955775.1",
"protein_id": "ENSP00000625834.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 634,
"cds_start": 820,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955775.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "ENST00000922630.1",
"protein_id": "ENSP00000592689.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 632,
"cds_start": 820,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922630.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "NM_001142805.2",
"protein_id": "NP_001136277.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 625,
"cds_start": 820,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142805.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Val258Leu",
"transcript": "ENST00000922632.1",
"protein_id": "ENSP00000592691.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 619,
"cds_start": 772,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922632.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Val237Leu",
"transcript": "ENST00000922633.1",
"protein_id": "ENSP00000592692.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 598,
"cds_start": 709,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922633.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "ENST00000922631.1",
"protein_id": "ENSP00000592690.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 589,
"cds_start": 820,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922631.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"transcript": "ENST00000955776.1",
"protein_id": "ENSP00000625835.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 582,
"cds_start": 820,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955776.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.475G>C",
"hgvs_p": "p.Val159Leu",
"transcript": "NM_001142806.1",
"protein_id": "NP_001136278.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 520,
"cds_start": 475,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142806.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.475G>C",
"hgvs_p": "p.Val159Leu",
"transcript": "ENST00000430077.6",
"protein_id": "ENSP00000403041.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 520,
"cds_start": 475,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430077.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.30G>C",
"hgvs_p": "p.Ser10Ser",
"transcript": "ENST00000413787.1",
"protein_id": "ENSP00000400463.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 155,
"cds_start": 30,
"cds_end": null,
"cds_length": 468,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "n.853G>C",
"hgvs_p": null,
"transcript": "ENST00000485324.1",
"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": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485324.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "n.146-409G>C",
"hgvs_p": null,
"transcript": "ENST00000467402.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 308,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"hgvs_c": "c.-186G>C",
"hgvs_p": null,
"transcript": "ENST00000442457.1",
"protein_id": "ENSP00000403682.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442457.1"
}
],
"gene_symbol": "SLC6A8",
"gene_hgnc_id": 11055,
"dbsnp": "rs782208622",
"frequency_reference_population": 9.120185e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.12018e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41891568899154663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.883,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005629.4",
"gene_symbol": "SLC6A8",
"hgnc_id": 11055,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}