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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: 2-96861051-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96861051&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96861051,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000305476.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "NM_017789.5",
"protein_id": "NP_060259.4",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "ENST00000305476.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "ENST00000305476.10",
"protein_id": "ENSP00000306844.5",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "NM_017789.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2203G>T",
"hgvs_p": "p.Glu735*",
"transcript": "XM_017004393.3",
"protein_id": "XP_016859882.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 875,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511378.3",
"protein_id": "XP_011509680.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511379.3",
"protein_id": "XP_011509681.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511380.2",
"protein_id": "XP_011509682.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511381.2",
"protein_id": "XP_011509683.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511382.4",
"protein_id": "XP_011509684.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_011511383.2",
"protein_id": "XP_011509685.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2077G>T",
"hgvs_p": "p.Glu693*",
"transcript": "XM_047444831.1",
"protein_id": "XP_047300787.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 833,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1654G>T",
"hgvs_p": "p.Glu552*",
"transcript": "XM_017004394.3",
"protein_id": "XP_016859883.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 692,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1874,
"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.2068G>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.1310G>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.2467G>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": "rs12471298",
"frequency_reference_population": 0.00694193,
"hom_count_reference_population": 1114,
"allele_count_reference_population": 11196,
"gnomad_exomes_af": 0.00645392,
"gnomad_genomes_af": 0.0116218,
"gnomad_exomes_ac": 9426,
"gnomad_genomes_ac": 1770,
"gnomad_exomes_homalt": 988,
"gnomad_genomes_homalt": 126,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.277,
"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": "PVS1_Strong,BA1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 8,
"pathogenic_score": 4,
"criteria": [
"PVS1_Strong",
"BA1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000305476.10",
"gene_symbol": "SEMA4C",
"hgnc_id": 10731,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Glu693*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}