← Back to variant description
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: 7-80744899-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80744899&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 80744899,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001350120.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "NM_006379.5",
"protein_id": "NP_006370.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265361.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006379.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000265361.8",
"protein_id": "ENSP00000265361.3",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006379.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265361.8"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2423_2424delAG",
"hgvs_p": "p.Glu808fs",
"transcript": "ENST00000953788.1",
"protein_id": "ENSP00000623847.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 809,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953788.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2366_2367delAG",
"hgvs_p": "p.Glu789fs",
"transcript": "ENST00000953787.1",
"protein_id": "ENSP00000623846.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 790,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953787.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2303_2304delAG",
"hgvs_p": "p.Glu768fs",
"transcript": "NM_001350120.2",
"protein_id": "NP_001337049.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 769,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350120.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2258_2259delAG",
"hgvs_p": "p.Glu753fs",
"transcript": "ENST00000878448.1",
"protein_id": "ENSP00000548507.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 754,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878448.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000419255.6",
"protein_id": "ENSP00000411193.2",
"transcript_support_level": 2,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419255.6"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000878446.1",
"protein_id": "ENSP00000548505.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878446.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000878449.1",
"protein_id": "ENSP00000548508.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878449.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000953794.1",
"protein_id": "ENSP00000623853.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953794.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2249_2250delAG",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000953795.1",
"protein_id": "ENSP00000623854.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 751,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953795.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2246_2247delAG",
"hgvs_p": "p.Glu749fs",
"transcript": "ENST00000953790.1",
"protein_id": "ENSP00000623849.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 750,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953790.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2243_2244delAG",
"hgvs_p": "p.Glu748fs",
"transcript": "ENST00000953789.1",
"protein_id": "ENSP00000623848.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 749,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953789.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2210_2211delAG",
"hgvs_p": "p.Glu737fs",
"transcript": "ENST00000953792.1",
"protein_id": "ENSP00000623851.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 738,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953792.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2129_2130delAG",
"hgvs_p": "p.Glu710fs",
"transcript": "ENST00000953793.1",
"protein_id": "ENSP00000623852.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 711,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953793.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.2075_2076delAG",
"hgvs_p": "p.Glu692fs",
"transcript": "NM_001350121.2",
"protein_id": "NP_001337050.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 693,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350121.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1991_1992delAG",
"hgvs_p": "p.Glu664fs",
"transcript": "ENST00000953791.1",
"protein_id": "ENSP00000623850.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 665,
"cds_start": 1991,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953791.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1814_1815delAG",
"hgvs_p": "p.Glu605fs",
"transcript": "ENST00000878447.1",
"protein_id": "ENSP00000548506.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 606,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878447.1"
}
],
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.982,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350120.2",
"gene_symbol": "SEMA3C",
"hgnc_id": 10725,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2303_2304delAG",
"hgvs_p": "p.Glu768fs"
}
],
"clinvar_disease": "SEMA3C-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SEMA3C-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}