← Back to variant description
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: 1-222650187-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=222650187&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 222650187,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000344922.10",
"consequences": [
{
"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": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "NM_198551.4",
"protein_id": "NP_940953.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8126,
"mane_select": "ENST00000344922.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "ENST00000344922.10",
"protein_id": "ENSP00000340900.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8126,
"mane_select": "NM_198551.4",
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.266-105A>C",
"hgvs_p": null,
"transcript": "ENST00000340535.11",
"protein_id": "ENSP00000345866.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2735,
"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": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "NM_001324062.2",
"protein_id": "NP_001310991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": -4,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8198,
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "NM_001324063.2",
"protein_id": "NP_001310992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1848,
"cds_start": -4,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7949,
"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": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3140-105A>C",
"hgvs_p": null,
"transcript": "NM_001324064.2",
"protein_id": "NP_001310993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1743,
"cds_start": -4,
"cds_end": null,
"cds_length": 5232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8171,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.2378-105A>C",
"hgvs_p": null,
"transcript": "ENST00000354906.7",
"protein_id": "ENSP00000355062.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1013,
"cds_start": -4,
"cds_end": null,
"cds_length": 3044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3045,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.266-105A>C",
"hgvs_p": null,
"transcript": "NM_001324065.2",
"protein_id": "NP_001310994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4965,
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.266-105A>C",
"hgvs_p": null,
"transcript": "NM_001300867.2",
"protein_id": "NP_001287796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "n.530-105A>C",
"hgvs_p": null,
"transcript": "ENST00000467190.1",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "n.326-105A>C",
"hgvs_p": null,
"transcript": "ENST00000495210.1",
"protein_id": null,
"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": 731,
"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": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "XM_006711304.5",
"protein_id": "XP_006711367.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1872,
"cds_start": -4,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8021,
"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": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3140-105A>C",
"hgvs_p": null,
"transcript": "XM_017001243.3",
"protein_id": "XP_016856732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1767,
"cds_start": -4,
"cds_end": null,
"cds_length": 5304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8009,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null,
"transcript": "XM_011509513.4",
"protein_id": "XP_011507815.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1553,
"cds_start": -4,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5510,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"hgvs_c": "c.266-105A>C",
"hgvs_p": null,
"transcript": "XM_047419783.1",
"protein_id": "XP_047275739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MIA3",
"gene_hgnc_id": 24008,
"dbsnp": "rs17465637",
"frequency_reference_population": 0.65645427,
"hom_count_reference_population": 165801,
"allele_count_reference_population": 483686,
"gnomad_exomes_af": 0.678552,
"gnomad_genomes_af": 0.571473,
"gnomad_exomes_ac": 396789,
"gnomad_genomes_ac": 86897,
"gnomad_exomes_homalt": 137757,
"gnomad_genomes_homalt": 28044,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.629,
"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": -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": "ENST00000344922.10",
"gene_symbol": "MIA3",
"hgnc_id": 24008,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3632-105A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}