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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: 3-50274469-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50274469&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA3B",
"hgnc_id": 10724,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001290061.1",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SEMA3B-AS1",
"hgnc_id": 49096,
"hgvs_c": "n.80-1256G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "ENST00000736630.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 63385,
"alphamissense_prediction": null,
"alphamissense_score": 0.0491,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "SEMA3B-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000012084378795407247,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001290060.2",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000616701.5",
"protein_coding": true,
"protein_id": "NP_001276989.1",
"strand": true,
"transcript": "NM_001290060.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000616701.5",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001290060.2",
"protein_coding": true,
"protein_id": "ENSP00000484146.1",
"strand": true,
"transcript": "ENST00000616701.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000611067.4",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480680.1",
"strand": true,
"transcript": "ENST00000611067.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "T",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000433753.4",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Thr414Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485281.1",
"strand": true,
"transcript": "ENST00000433753.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 406,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1221,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000456560.6",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485646.1",
"strand": true,
"transcript": "ENST00000456560.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000441915.5",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "n.1240C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000441915.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942600.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612659.1",
"strand": true,
"transcript": "ENST00000942600.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 755,
"aa_ref": "T",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942595.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Thr414Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612654.1",
"strand": true,
"transcript": "ENST00000942595.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001290061.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276990.1",
"strand": true,
"transcript": "NM_001290061.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001435956.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001422885.1",
"strand": true,
"transcript": "NM_001435956.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_004636.4",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004627.1",
"strand": true,
"transcript": "NM_004636.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000618865.4",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481957.1",
"strand": true,
"transcript": "ENST00000618865.4",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852511.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522570.1",
"strand": true,
"transcript": "ENST00000852511.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852512.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522571.1",
"strand": true,
"transcript": "ENST00000852512.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852513.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522572.1",
"strand": true,
"transcript": "ENST00000852513.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852514.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522573.1",
"strand": true,
"transcript": "ENST00000852514.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852515.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522574.1",
"strand": true,
"transcript": "ENST00000852515.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852516.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522575.1",
"strand": true,
"transcript": "ENST00000852516.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942593.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612652.1",
"strand": true,
"transcript": "ENST00000942593.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942594.1",
"gene_hgnc_id": 10724,
"gene_symbol": "SEMA3B",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612653.1",
"strand": true,
"transcript": "ENST00000942594.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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