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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: 12-7496888-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7496888&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7496888,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000432237.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "NM_203416.4",
"protein_id": "NP_981961.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": "ENST00000432237.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "ENST00000432237.3",
"protein_id": "ENSP00000403885.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": "NM_203416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "ENST00000359156.8",
"protein_id": "ENSP00000352071.4",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "NM_004244.6",
"protein_id": "NP_004235.4",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "ENST00000396620.7",
"protein_id": "ENSP00000379863.3",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "NM_001370146.1",
"protein_id": "NP_001357075.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "NM_001370145.1",
"protein_id": "NP_001357074.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Ile330Val",
"transcript": "ENST00000541972.5",
"protein_id": "ENSP00000444071.1",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 1109,
"cds_start": 988,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "XM_047429895.1",
"protein_id": "XP_047285851.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val",
"transcript": "XM_024449278.2",
"protein_id": "XP_024305046.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4170,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "n.1110A>G",
"hgvs_p": null,
"transcript": "ENST00000537044.1",
"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": 5312,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"hgvs_c": "n.975A>G",
"hgvs_p": null,
"transcript": "NR_163255.1",
"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": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD163",
"gene_hgnc_id": 1631,
"dbsnp": "rs4883263",
"frequency_reference_population": 0.9344924,
"hom_count_reference_population": 711910,
"allele_count_reference_population": 1508196,
"gnomad_exomes_af": 0.943462,
"gnomad_genomes_af": 0.848334,
"gnomad_exomes_ac": 1379100,
"gnomad_genomes_ac": 129096,
"gnomad_exomes_homalt": 655280,
"gnomad_genomes_homalt": 56630,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000016509773104189662,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.068,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000432237.3",
"gene_symbol": "CD163",
"hgnc_id": 1631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ile342Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}