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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: 6-35737309-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35737309&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35737309,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001286574.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "ENST00000288065.6",
"protein_id": "ENSP00000288065.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1169,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "NM_001286574.2",
"protein_id": "NP_001273503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": "ENST00000373866.4",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "ENST00000373866.4",
"protein_id": "ENSP00000362973.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1309,
"mane_select": "NM_001286574.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "NM_145028.5",
"protein_id": "NP_659465.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "XM_017010435.3",
"protein_id": "XP_016865924.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "XM_047418343.1",
"protein_id": "XP_047274299.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "XM_047418344.1",
"protein_id": "XP_047274300.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "XM_047418345.1",
"protein_id": "XP_047274301.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gln67Gln",
"transcript": "XM_047418346.1",
"protein_id": "XP_047274302.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 201,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1487,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "NM_001286576.2",
"protein_id": "NP_001273505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "ENST00000373869.7",
"protein_id": "ENSP00000362976.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1111,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "n.163+38G>A",
"hgvs_p": null,
"transcript": "ENST00000471400.1",
"protein_id": "ENSP00000418825.1",
"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": 480,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232909",
"gene_hgnc_id": null,
"hgvs_c": "n.56+325C>T",
"hgvs_p": null,
"transcript": "ENST00000763123.1",
"protein_id": null,
"transcript_support_level": null,
"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": 906,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232909",
"gene_hgnc_id": null,
"hgvs_c": "n.54+325C>T",
"hgvs_p": null,
"transcript": "ENST00000763124.1",
"protein_id": null,
"transcript_support_level": null,
"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": 834,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "XM_047418347.1",
"protein_id": "XP_047274303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.163+38G>A",
"hgvs_p": null,
"transcript": "XM_047418348.1",
"protein_id": "XP_047274304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
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"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.22-690G>A",
"hgvs_p": null,
"transcript": "XM_011514381.3",
"protein_id": "XP_011512683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1584,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"hgvs_c": "c.-127+38G>A",
"hgvs_p": null,
"transcript": "XM_011514382.3",
"protein_id": "XP_011512684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC12",
"gene_hgnc_id": 21099,
"dbsnp": "rs1020056210",
"frequency_reference_population": 0.0000013681089,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.992,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001286574.2",
"gene_symbol": "ARMC12",
"hgnc_id": 21099,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.163+38G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000763123.1",
"gene_symbol": "ENSG00000232909",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.56+325C>T",
"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
}