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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: 1-43899577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43899577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ST3GAL3",
"hgnc_id": 10866,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Asp213Asp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_001350619.2",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000284989",
"hgnc_id": null,
"hgvs_c": "n.*1916C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000645057.1",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306755",
"hgnc_id": null,
"hgvs_c": "n.208+2904G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000820823.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_score": -15,
"allele_count_reference_population": 68,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Developmental and epileptic encephalopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1128,
"cds_start": 594,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006279.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Asp198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347631.8",
"protein_coding": true,
"protein_id": "NP_006270.1",
"strand": true,
"transcript": "NM_006279.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1128,
"cds_start": 594,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000347631.8",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Asp198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006279.5",
"protein_coding": true,
"protein_id": "ENSP00000317192.6",
"strand": true,
"transcript": "ENST00000347631.8",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 413,
"aa_ref": "D",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1242,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000372372.7",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Asp236Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361447.2",
"strand": true,
"transcript": "ENST00000372372.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 406,
"aa_ref": "D",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1221,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361746.9",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Asp229Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354657.5",
"strand": true,
"transcript": "ENST00000361746.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 390,
"aa_ref": "D",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1173,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361392.9",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Asp213Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355341.5",
"strand": true,
"transcript": "ENST00000361392.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1143,
"cds_start": 756,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000372368.7",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.756C>T",
"hgvs_p": "p.Asp252Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361443.3",
"strand": true,
"transcript": "ENST00000372368.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 359,
"aa_ref": "D",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1080,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361400.9",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Asp182Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354748.4",
"strand": true,
"transcript": "ENST00000361400.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 345,
"aa_ref": "D",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1038,
"cds_start": 594,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000372369.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Asp198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361444.1",
"strand": true,
"transcript": "ENST00000372369.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 307,
"aa_ref": "D",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 537,
"cds_end": null,
"cds_length": 924,
"cds_start": 537,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000533933.6",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.537C>T",
"hgvs_p": "p.Asp179Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432965.2",
"strand": true,
"transcript": "ENST00000533933.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 303,
"aa_ref": "D",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 380,
"cds_end": null,
"cds_length": 912,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000332628.11",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Asp126Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329755.7",
"strand": true,
"transcript": "ENST00000332628.11",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 230,
"aa_ref": "D",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": 453,
"cds_end": null,
"cds_length": 693,
"cds_start": 453,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531993.6",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Asp151Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432682.2",
"strand": true,
"transcript": "ENST00000531993.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 644,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372367.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.554+314C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361442.1",
"strand": true,
"transcript": "ENST00000372367.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 673,
"cdna_start": null,
"cds_end": null,
"cds_length": 561,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372365.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.*22+288C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361440.1",
"strand": true,
"transcript": "ENST00000372365.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": null,
"cds_end": null,
"cds_length": 561,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528371.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.509+314C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434876.1",
"strand": true,
"transcript": "ENST00000528371.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 185,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": null,
"cds_end": null,
"cds_length": 558,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372366.6",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.*22+288C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361441.1",
"strand": true,
"transcript": "ENST00000372366.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361812.9",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.442+5100C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355201.4",
"strand": true,
"transcript": "ENST00000361812.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 468,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372362.6",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.397+5100C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361437.2",
"strand": true,
"transcript": "ENST00000372362.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 420,
"cdna_start": null,
"cds_end": null,
"cds_length": 420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531451.5",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.349+5100C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435603.1",
"strand": true,
"transcript": "ENST00000531451.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 344,
"cdna_start": null,
"cds_end": null,
"cds_length": 306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531816.1",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "c.255-30555C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434378.1",
"strand": true,
"transcript": "ENST00000531816.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000469715.6",
"gene_hgnc_id": 10866,
"gene_symbol": "ST3GAL3",
"hgvs_c": "n.*220C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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