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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: 2-96860784-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96860784&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96860784,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017789.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "NM_017789.5",
"protein_id": "NP_060259.4",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "ENST00000305476.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "ENST00000305476.10",
"protein_id": "ENSP00000306844.5",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "NM_017789.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2470C>T",
"hgvs_p": "p.Arg824Trp",
"transcript": "XM_017004393.3",
"protein_id": "XP_016859882.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 875,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511378.3",
"protein_id": "XP_011509680.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511379.3",
"protein_id": "XP_011509681.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2615,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511380.2",
"protein_id": "XP_011509682.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511381.2",
"protein_id": "XP_011509683.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511382.4",
"protein_id": "XP_011509684.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_011511383.2",
"protein_id": "XP_011509685.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "XM_047444831.1",
"protein_id": "XP_047300787.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 833,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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.1921C>T",
"hgvs_p": "p.Arg641Trp",
"transcript": "XM_017004394.3",
"protein_id": "XP_016859883.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 692,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2141,
"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.2335C>T",
"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.1577C>T",
"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.2734C>T",
"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": "rs201290789",
"frequency_reference_population": 0.0000117736145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000889478,
"gnomad_genomes_af": 0.0000394099,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5643317699432373,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.366,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2053,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.535,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017789.5",
"gene_symbol": "SEMA4C",
"hgnc_id": 10731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.Arg782Trp"
}
],
"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
}