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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: 1-46815187-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46815187&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46815187,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000371923.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Met332Ile",
"transcript": "NM_001099772.2",
"protein_id": "NP_001093242.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 512,
"cds_start": 996,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": "ENST00000371923.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Met332Ile",
"transcript": "ENST00000371923.9",
"protein_id": "ENSP00000360991.4",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 512,
"cds_start": 996,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": "NM_001099772.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Met331Ile",
"transcript": "ENST00000271153.8",
"protein_id": "ENSP00000271153.4",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 511,
"cds_start": 993,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Met317Ile",
"transcript": "ENST00000371919.8",
"protein_id": "ENSP00000360987.4",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 497,
"cds_start": 951,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*703G>A",
"hgvs_p": null,
"transcript": "ENST00000529715.5",
"protein_id": "ENSP00000443212.1",
"transcript_support_level": 1,
"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": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*703G>A",
"hgvs_p": null,
"transcript": "ENST00000529715.5",
"protein_id": "ENSP00000443212.1",
"transcript_support_level": 1,
"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": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Met331Ile",
"transcript": "NM_000779.4",
"protein_id": "NP_000770.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 511,
"cds_start": 993,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Met317Ile",
"transcript": "NM_001319161.2",
"protein_id": "NP_001306090.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 497,
"cds_start": 951,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.507G>A",
"hgvs_p": "p.Met169Ile",
"transcript": "NM_001319162.2",
"protein_id": "NP_001306091.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 349,
"cds_start": 507,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Met168Ile",
"transcript": "NM_001319163.2",
"protein_id": "NP_001306092.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 348,
"cds_start": 504,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.741G>A",
"hgvs_p": null,
"transcript": "ENST00000452782.6",
"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": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.923G>A",
"hgvs_p": null,
"transcript": "ENST00000464439.6",
"protein_id": "ENSP00000433068.1",
"transcript_support_level": 3,
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.708G>A",
"hgvs_p": null,
"transcript": "ENST00000468637.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.114G>A",
"hgvs_p": null,
"transcript": "ENST00000481248.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*542G>A",
"hgvs_p": null,
"transcript": "ENST00000534708.6",
"protein_id": "ENSP00000433367.2",
"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": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.959G>A",
"hgvs_p": null,
"transcript": "NR_135003.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*542G>A",
"hgvs_p": null,
"transcript": "ENST00000534708.6",
"protein_id": "ENSP00000433367.2",
"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": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"dbsnp": "rs2297810",
"frequency_reference_population": 0.16317573,
"hom_count_reference_population": 25331,
"allele_count_reference_population": 262990,
"gnomad_exomes_af": 0.155947,
"gnomad_genomes_af": 0.23252,
"gnomad_exomes_ac": 227614,
"gnomad_genomes_ac": 35376,
"gnomad_exomes_homalt": 20041,
"gnomad_genomes_homalt": 5290,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002852320671081543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.282,
"revel_prediction": "Benign",
"alphamissense_score": 0.5246,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.088,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000371923.9",
"gene_symbol": "CYP4B1",
"hgnc_id": 2644,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Met332Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}