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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: 8-22623977-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22623977&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22623977,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018688.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_018688.6",
"protein_id": "NP_061158.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 253,
"cds_start": 553,
"cds_end": null,
"cds_length": 762,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": "ENST00000276416.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018688.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000276416.11",
"protein_id": "ENSP00000276416.6",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 253,
"cds_start": 553,
"cds_end": null,
"cds_length": 762,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": "NM_018688.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276416.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.565C>G",
"hgvs_p": "p.Arg189Gly",
"transcript": "ENST00000853250.1",
"protein_id": "ENSP00000523309.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 257,
"cds_start": 565,
"cds_end": null,
"cds_length": 774,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853250.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.490C>G",
"hgvs_p": "p.Arg164Gly",
"transcript": "ENST00000939253.1",
"protein_id": "ENSP00000609312.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 232,
"cds_start": 490,
"cds_end": null,
"cds_length": 699,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 1461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939253.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Arg137Gly",
"transcript": "NM_001363046.2",
"protein_id": "NP_001349975.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363046.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Arg131Gly",
"transcript": "ENST00000519513.5",
"protein_id": "ENSP00000430423.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 199,
"cds_start": 391,
"cds_end": null,
"cds_length": 600,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519513.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Arg131Gly",
"transcript": "XM_047421995.1",
"protein_id": "XP_047277951.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 199,
"cds_start": 391,
"cds_end": null,
"cds_length": 600,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421995.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.*335C>G",
"hgvs_p": null,
"transcript": "ENST00000399977.9",
"protein_id": "ENSP00000382859.5",
"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": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399977.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.532C>G",
"hgvs_p": null,
"transcript": "ENST00000519335.5",
"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": 893,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "ENST00000519863.5",
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519863.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.2394C>G",
"hgvs_p": null,
"transcript": "ENST00000520489.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000520489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.623C>G",
"hgvs_p": null,
"transcript": "NR_156436.2",
"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": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156436.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"hgvs_c": "n.*335C>G",
"hgvs_p": null,
"transcript": "ENST00000399977.9",
"protein_id": "ENSP00000382859.5",
"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": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399977.9"
}
],
"gene_symbol": "BIN3",
"gene_hgnc_id": 1054,
"dbsnp": "rs11550511",
"frequency_reference_population": 6.848621e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84862e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5513402223587036,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.68,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018688.6",
"gene_symbol": "BIN3",
"hgnc_id": 1054,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Arg185Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}