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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: 12-9094987-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9094987&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9094987,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000318602.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"transcript": "NM_000014.6",
"protein_id": "NP_000005.3",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2111,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "ENST00000318602.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"transcript": "ENST00000318602.12",
"protein_id": "ENSP00000323929.8",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2111,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "NM_000014.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"transcript": "NM_001347423.2",
"protein_id": "NP_001334352.2",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2111,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604His",
"transcript": "NM_001347424.2",
"protein_id": "NP_001334353.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1811,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554His",
"transcript": "NM_001347425.2",
"protein_id": "NP_001334354.2",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1324,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"transcript": "XM_006719056.4",
"protein_id": "XP_006719119.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1512,
"cds_start": 2111,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 4953,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "n.*208G>A",
"hgvs_p": null,
"transcript": "ENST00000546069.1",
"protein_id": "ENSP00000438599.1",
"transcript_support_level": 5,
"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": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "n.*208G>A",
"hgvs_p": null,
"transcript": "ENST00000546069.1",
"protein_id": "ENSP00000438599.1",
"transcript_support_level": 5,
"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": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "n.348+6563G>A",
"hgvs_p": null,
"transcript": "ENST00000545828.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*33+36821C>T",
"hgvs_p": null,
"transcript": "XM_017018684.2",
"protein_id": "XP_016874173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*33+36821C>T",
"hgvs_p": null,
"transcript": "XM_017018685.2",
"protein_id": "XP_016874174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*33+36821C>T",
"hgvs_p": null,
"transcript": "XM_047428074.1",
"protein_id": "XP_047284030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"dbsnp": "rs1800434",
"frequency_reference_population": 0.000005119541,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000425378,
"gnomad_genomes_af": 0.0000131467,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08111301064491272,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.185,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000318602.12",
"gene_symbol": "A2M",
"hgnc_id": 7,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XM_017018684.2",
"gene_symbol": "KLRG1",
"hgnc_id": 6380,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*33+36821C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ALPHA-2-MACROGLOBULIN POLYMORPHISM",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ALPHA-2-MACROGLOBULIN POLYMORPHISM",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}