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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: 7-80745137-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80745137&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SEMA3C",
"hgnc_id": 10725,
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Thr689Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001350120.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_score": -4,
"allele_count_reference_population": 39,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "SEMA3C-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_006379.5",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265361.8",
"protein_coding": true,
"protein_id": "NP_006370.1",
"strand": false,
"transcript": "NM_006379.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000265361.8",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006379.5",
"protein_coding": true,
"protein_id": "ENSP00000265361.3",
"strand": false,
"transcript": "ENST00000265361.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 809,
"aa_ref": "T",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000953788.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2187G>A",
"hgvs_p": "p.Thr729Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623847.1",
"strand": false,
"transcript": "ENST00000953788.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 790,
"aa_ref": "T",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2130,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953787.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2130G>A",
"hgvs_p": "p.Thr710Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623846.1",
"strand": false,
"transcript": "ENST00000953787.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "T",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4775,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2067,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350120.2",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Thr689Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337049.1",
"strand": false,
"transcript": "NM_001350120.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2022,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000878448.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2022G>A",
"hgvs_p": "p.Thr674Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548507.1",
"strand": false,
"transcript": "ENST00000878448.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000419255.6",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411193.2",
"strand": false,
"transcript": "ENST00000419255.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000878446.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548505.1",
"strand": false,
"transcript": "ENST00000878446.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4995,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000878449.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548508.1",
"strand": false,
"transcript": "ENST00000878449.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 2448,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953794.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623853.1",
"strand": false,
"transcript": "ENST00000953794.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953795.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623854.1",
"strand": false,
"transcript": "ENST00000953795.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 750,
"aa_ref": "T",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4910,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2253,
"cds_start": 2010,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953790.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2010G>A",
"hgvs_p": "p.Thr670Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623849.1",
"strand": false,
"transcript": "ENST00000953790.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2007,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953789.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.2007G>A",
"hgvs_p": "p.Thr669Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623848.1",
"strand": false,
"transcript": "ENST00000953789.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 738,
"aa_ref": "T",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1974,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953792.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Thr658Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623851.1",
"strand": false,
"transcript": "ENST00000953792.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1893,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000953793.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1893G>A",
"hgvs_p": "p.Thr631Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623852.1",
"strand": false,
"transcript": "ENST00000953793.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 693,
"aa_ref": "T",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1839,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001350121.2",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1839G>A",
"hgvs_p": "p.Thr613Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337050.1",
"strand": false,
"transcript": "NM_001350121.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 665,
"aa_ref": "T",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000953791.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Thr585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623850.1",
"strand": false,
"transcript": "ENST00000953791.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 606,
"aa_ref": "T",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1578,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000878447.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1578G>A",
"hgvs_p": "p.Thr526Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548506.1",
"strand": false,
"transcript": "ENST00000878447.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs370225417",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000024165785,
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000232599,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328709,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "SEMA3C-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.279,
"pos": 80745137,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001350120.2"
}
]
}