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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: 6-35747589-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35747589&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35747589,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145028.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "NM_001286574.2",
"protein_id": "NP_001273503.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 340,
"cds_start": 632,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": "ENST00000373866.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286574.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "ENST00000373866.4",
"protein_id": "ENSP00000362973.3",
"transcript_support_level": 3,
"aa_start": 211,
"aa_end": null,
"aa_length": 340,
"cds_start": 632,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": "NM_001286574.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373866.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "ENST00000288065.6",
"protein_id": "ENSP00000288065.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288065.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "NM_145028.5",
"protein_id": "NP_659465.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145028.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "NM_001286576.2",
"protein_id": "NP_001273505.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 330,
"cds_start": 632,
"cds_end": null,
"cds_length": 993,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286576.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "ENST00000373869.7",
"protein_id": "ENSP00000362976.3",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 330,
"cds_start": 632,
"cds_end": null,
"cds_length": 993,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373869.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "XM_017010435.3",
"protein_id": "XP_016865924.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010435.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "XM_047418343.1",
"protein_id": "XP_047274299.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418343.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "XM_047418344.1",
"protein_id": "XP_047274300.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418344.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "XM_047418345.1",
"protein_id": "XP_047274301.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418345.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "XM_047418346.1",
"protein_id": "XP_047274302.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 713,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418346.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "XM_047418347.1",
"protein_id": "XP_047274303.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 340,
"cds_start": 632,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418347.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "XM_047418348.1",
"protein_id": "XP_047274304.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 340,
"cds_start": 632,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418348.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "XM_011514381.3",
"protein_id": "XP_011512683.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 302,
"cds_start": 518,
"cds_end": null,
"cds_length": 909,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514381.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.371G>T",
"hgvs_p": "p.Arg124Leu",
"transcript": "XM_011514382.3",
"protein_id": "XP_011512684.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 253,
"cds_start": 371,
"cds_end": null,
"cds_length": 762,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514382.3"
}
],
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"dbsnp": "rs200319789",
"frequency_reference_population": 6.8406473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84065e-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": 0.8501802682876587,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.565,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.582,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_145028.5",
"gene_symbol": "ARMC12",
"hgnc_id": 21099,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}