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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-48909843-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48909843&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35A2",
"hgnc_id": 11022,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Cys110Phe",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001282651.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9858,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "X",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "SLC35A2-congenital disorder of glycosylation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9215120077133179,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 396,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1191,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_005660.3",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000247138.11",
"protein_coding": true,
"protein_id": "NP_005651.1",
"strand": false,
"transcript": "NM_005660.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 396,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1191,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000247138.11",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005660.3",
"protein_coding": true,
"protein_id": "ENSP00000247138.5",
"strand": false,
"transcript": "ENST00000247138.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1182,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376521.6",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365704.1",
"strand": false,
"transcript": "ENST00000376521.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 242,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 278,
"cds_end": null,
"cds_length": 729,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000445167.7",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402726.2",
"strand": false,
"transcript": "ENST00000445167.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 421,
"aa_ref": "C",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1266,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282651.2",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Cys110Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269580.1",
"strand": false,
"transcript": "NM_001282651.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 421,
"aa_ref": "C",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1266,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000452555.7",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Cys110Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416002.2",
"strand": false,
"transcript": "ENST00000452555.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 409,
"aa_ref": "C",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1230,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000876225.1",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Cys95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546284.1",
"strand": false,
"transcript": "ENST00000876225.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 406,
"aa_ref": "C",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1221,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001282650.2",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Cys95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269579.1",
"strand": false,
"transcript": "NM_001282650.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 406,
"aa_ref": "C",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1221,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000616181.5",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Cys95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478617.1",
"strand": false,
"transcript": "ENST00000616181.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1182,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001042498.3",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035963.1",
"strand": false,
"transcript": "NM_001042498.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 242,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 255,
"cds_end": null,
"cds_length": 729,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001032289.3",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027460.1",
"strand": false,
"transcript": "NM_001032289.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 224,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 866,
"cdna_start": 255,
"cds_end": null,
"cds_length": 675,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001282647.2",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269576.1",
"strand": false,
"transcript": "NM_001282647.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 224,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 255,
"cds_end": null,
"cds_length": 675,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376529.8",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365712.3",
"strand": false,
"transcript": "ENST00000376529.8",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "C",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 254,
"cds_end": null,
"cds_length": 657,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001282648.2",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Cys58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269577.1",
"strand": false,
"transcript": "NM_001282648.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "C",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 254,
"cds_end": null,
"cds_length": 657,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376515.8",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Cys58Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365698.3",
"strand": false,
"transcript": "ENST00000376515.8",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 201,
"aa_ref": "C",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 30,
"cds_end": null,
"cds_length": 606,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000413561.7",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.29G>T",
"hgvs_p": "p.Cys10Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393233.3",
"strand": false,
"transcript": "ENST00000413561.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 176,
"aa_ref": "C",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": 294,
"cds_end": null,
"cds_length": 531,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000635015.1",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Cys95Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489089.1",
"strand": false,
"transcript": "ENST00000635015.1",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 174,
"aa_ref": "C",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 877,
"cdna_start": 379,
"cds_end": null,
"cds_length": 527,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000446885.1",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.29G>T",
"hgvs_p": "p.Cys10Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415518.1",
"strand": false,
"transcript": "ENST00000446885.1",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 174,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": 243,
"cds_end": null,
"cds_length": 525,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000635460.1",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.242G>T",
"hgvs_p": "p.Cys81Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489339.1",
"strand": false,
"transcript": "ENST00000635460.1",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 163,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 286,
"cds_end": null,
"cds_length": 492,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376512.2",
"gene_hgnc_id": 11022,
"gene_symbol": "SLC35A2",
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Cys82Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365695.1",
"strand": false,
"transcript": "ENST00000376512.2",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 114,
"aa_ref": "C",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 486,
"cdna_start": 255,
"cds_end": null,
"cds_length": 345,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000634665.1",
"gene_hgnc_id": 11022,
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}