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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: 15-74411588-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74411588&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74411588,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003612.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1545A>G",
"hgvs_p": "p.Gln515Gln",
"transcript": "NM_003612.5",
"protein_id": "NP_003603.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 666,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261918.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003612.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1545A>G",
"hgvs_p": "p.Gln515Gln",
"transcript": "ENST00000261918.9",
"protein_id": "ENSP00000261918.4",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 666,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003612.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261918.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "NM_001146029.3",
"protein_id": "NP_001139501.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 652,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146029.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "ENST00000543145.6",
"protein_id": "ENSP00000438966.2",
"transcript_support_level": 2,
"aa_start": 501,
"aa_end": null,
"aa_length": 652,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543145.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Gln350Gln",
"transcript": "NM_001146030.3",
"protein_id": "NP_001139502.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 501,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146030.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Gln350Gln",
"transcript": "ENST00000542748.6",
"protein_id": "ENSP00000441493.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 501,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542748.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "c.1422A>G",
"hgvs_p": "p.Gln474Gln",
"transcript": "XM_047433177.1",
"protein_id": "XP_047289133.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 625,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"hgvs_c": "n.52A>G",
"hgvs_p": null,
"transcript": "ENST00000569617.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6881",
"gene_hgnc_id": 50098,
"hgvs_c": "n.-156A>G",
"hgvs_p": null,
"transcript": "ENST00000616450.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000616450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6881",
"gene_hgnc_id": 50098,
"hgvs_c": "n.-156A>G",
"hgvs_p": null,
"transcript": "NR_106941.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6881",
"gene_hgnc_id": 50098,
"hgvs_c": "n.-206A>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_2717",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_2717"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6881",
"gene_hgnc_id": 50098,
"hgvs_c": "n.-161A>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_2718",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_2718"
}
],
"gene_symbol": "SEMA7A",
"gene_hgnc_id": 10741,
"dbsnp": "rs741761",
"frequency_reference_population": 0.30386862,
"hom_count_reference_population": 83786,
"allele_count_reference_population": 482547,
"gnomad_exomes_af": 0.294559,
"gnomad_genomes_af": 0.391814,
"gnomad_exomes_ac": 422985,
"gnomad_genomes_ac": 59562,
"gnomad_exomes_homalt": 69657,
"gnomad_genomes_homalt": 14129,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.369,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003612.5",
"gene_symbol": "SEMA7A",
"hgnc_id": 10741,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "BG,AR",
"hgvs_c": "c.1545A>G",
"hgvs_p": "p.Gln515Gln"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_106941.1",
"gene_symbol": "MIR6881",
"hgnc_id": 50098,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-156A>G",
"hgvs_p": null
}
],
"clinvar_disease": "SEMA7A-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SEMA7A-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}