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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: 6-35738385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35738385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ARMC12",
"hgnc_id": 21099,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_145028.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_score": 3,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.6802,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5954467058181763,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1309,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1023,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286574.2",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373866.4",
"protein_coding": true,
"protein_id": "NP_001273503.1",
"strand": true,
"transcript": "NM_001286574.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1309,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1023,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373866.4",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286574.2",
"protein_coding": true,
"protein_id": "ENSP00000362973.3",
"strand": true,
"transcript": "ENST00000373866.4",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000288065.6",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288065.2",
"strand": true,
"transcript": "ENST00000288065.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1390,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145028.5",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_659465.2",
"strand": true,
"transcript": "NM_145028.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 388,
"cds_end": null,
"cds_length": 993,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286576.2",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273505.1",
"strand": true,
"transcript": "NM_001286576.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 388,
"cds_end": null,
"cds_length": 993,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373869.7",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362976.3",
"strand": true,
"transcript": "ENST00000373869.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 2745,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017010435.3",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865924.1",
"strand": true,
"transcript": "XM_017010435.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047418343.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274299.1",
"strand": true,
"transcript": "XM_047418343.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418344.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274300.1",
"strand": true,
"transcript": "XM_047418344.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418345.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274301.1",
"strand": true,
"transcript": "XM_047418345.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1104,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418346.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274302.1",
"strand": true,
"transcript": "XM_047418346.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 1023,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418347.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274303.1",
"strand": true,
"transcript": "XM_047418347.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1023,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418348.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274304.1",
"strand": true,
"transcript": "XM_047418348.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 663,
"cds_end": null,
"cds_length": 909,
"cds_start": 197,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011514381.3",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512683.1",
"strand": true,
"transcript": "XM_011514381.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 416,
"cds_end": null,
"cds_length": 762,
"cds_start": 50,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011514382.3",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512684.1",
"strand": true,
"transcript": "XM_011514382.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471400.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "n.*171C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418825.1",
"strand": true,
"transcript": "ENST00000471400.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471400.1",
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"hgvs_c": "n.*171C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418825.1",
"strand": true,
"transcript": "ENST00000471400.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.966597346928354,
"dbsnp": "rs756110834",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.000016734783,
"gene_hgnc_id": 21099,
"gene_symbol": "ARMC12",
"gnomad_exomes_ac": 25,
"gnomad_exomes_af": 0.0000171032,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131848,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.579,
"pos": 35738385,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.178,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.6840000152587891,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145028.5"
}
]
}