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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: 2-96860849-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96860849&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96860849,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000305476.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "NM_017789.5",
"protein_id": "NP_060259.4",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "ENST00000305476.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "ENST00000305476.10",
"protein_id": "ENSP00000306844.5",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "NM_017789.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2405C>T",
"hgvs_p": "p.Ser802Leu",
"transcript": "XM_017004393.3",
"protein_id": "XP_016859882.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 875,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511378.3",
"protein_id": "XP_011509680.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511379.3",
"protein_id": "XP_011509681.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511380.2",
"protein_id": "XP_011509682.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511381.2",
"protein_id": "XP_011509683.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511382.4",
"protein_id": "XP_011509684.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_011511383.2",
"protein_id": "XP_011509685.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2279C>T",
"hgvs_p": "p.Ser760Leu",
"transcript": "XM_047444831.1",
"protein_id": "XP_047300787.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 833,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1856C>T",
"hgvs_p": "p.Ser619Leu",
"transcript": "XM_017004394.3",
"protein_id": "XP_016859883.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 692,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2076,
"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.2270C>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.1512C>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.2669C>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": "rs535886702",
"frequency_reference_population": 0.000037194495,
"hom_count_reference_population": 1,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000369651,
"gnomad_genomes_af": 0.0000393949,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10962235927581787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.1086,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.89,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000305476.10",
"gene_symbol": "SEMA4C",
"hgnc_id": 10731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2279C>T",
"hgvs_p": "p.Ser760Leu"
}
],
"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
}