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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: 2-96860687-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96860687&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96860687,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000305476.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "NM_017789.5",
"protein_id": "NP_060259.4",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "ENST00000305476.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "ENST00000305476.10",
"protein_id": "ENSP00000306844.5",
"transcript_support_level": 1,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "NM_017789.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2567G>C",
"hgvs_p": "p.Arg856Thr",
"transcript": "XM_017004393.3",
"protein_id": "XP_016859882.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 875,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511378.3",
"protein_id": "XP_011509680.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511379.3",
"protein_id": "XP_011509681.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511380.2",
"protein_id": "XP_011509682.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511381.2",
"protein_id": "XP_011509683.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511382.4",
"protein_id": "XP_011509684.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_011511383.2",
"protein_id": "XP_011509685.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr",
"transcript": "XM_047444831.1",
"protein_id": "XP_047300787.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 833,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "c.2018G>C",
"hgvs_p": "p.Arg673Thr",
"transcript": "XM_017004394.3",
"protein_id": "XP_016859883.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 692,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "n.2432G>C",
"hgvs_p": null,
"transcript": "ENST00000467747.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "n.1674G>C",
"hgvs_p": null,
"transcript": "ENST00000474420.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"hgvs_c": "n.2831G>C",
"hgvs_p": null,
"transcript": "ENST00000482925.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEMA4C",
"gene_hgnc_id": 10731,
"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": 0.3436078131198883,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.5708,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.509,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000305476.10",
"gene_symbol": "SEMA4C",
"hgnc_id": 10731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2441G>C",
"hgvs_p": "p.Arg814Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}