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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: 17-69105577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=69105577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCA6",
"hgnc_id": 36,
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_080284.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 1413575,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1345,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0000011847249652419123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 4854,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_080284.3",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284425.7",
"protein_coding": true,
"protein_id": "NP_525023.2",
"strand": false,
"transcript": "NM_080284.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 4854,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000284425.7",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080284.3",
"protein_coding": true,
"protein_id": "ENSP00000284425.1",
"strand": false,
"transcript": "ENST00000284425.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8186,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590311.5",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "n.6521G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000590311.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1664,
"aa_ref": "M",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6929,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 4995,
"cds_start": 2766,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000886836.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2766G>A",
"hgvs_p": "p.Met922Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556895.1",
"strand": false,
"transcript": "ENST00000886836.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "M",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 3010,
"cds_end": null,
"cds_length": 4950,
"cds_start": 2721,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000886838.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2721G>A",
"hgvs_p": "p.Met907Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556897.1",
"strand": false,
"transcript": "ENST00000886838.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8781,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 4854,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886834.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556893.1",
"strand": false,
"transcript": "ENST00000886834.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 4854,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000886844.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556903.1",
"strand": false,
"transcript": "ENST00000886844.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "M",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 4830,
"cds_start": 2601,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886839.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2601G>A",
"hgvs_p": "p.Met867Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556898.1",
"strand": false,
"transcript": "ENST00000886839.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1591,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5202,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 4776,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886842.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556901.1",
"strand": false,
"transcript": "ENST00000886842.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6088,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 4734,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886837.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556896.1",
"strand": false,
"transcript": "ENST00000886837.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1570,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 4713,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886843.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556902.1",
"strand": false,
"transcript": "ENST00000886843.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5763,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 4656,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886835.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556894.1",
"strand": false,
"transcript": "ENST00000886835.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 4593,
"cds_start": 2625,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000886841.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.2625G>A",
"hgvs_p": "p.Met875Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556900.1",
"strand": false,
"transcript": "ENST00000886841.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 974,
"aa_ref": "M",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 892,
"cds_end": null,
"cds_length": 2925,
"cds_start": 696,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886840.1",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Met232Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556899.1",
"strand": false,
"transcript": "ENST00000886840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000589803.5",
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"hgvs_c": "n.1620G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000589803.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7212506",
"effect": "missense_variant",
"frequency_reference_population": 0.9061413,
"gene_hgnc_id": 36,
"gene_symbol": "ABCA6",
"gnomad_exomes_ac": 1293811,
"gnomad_exomes_af": 0.918947,
"gnomad_exomes_homalt": 599373,
"gnomad_genomes_ac": 119764,
"gnomad_genomes_af": 0.787579,
"gnomad_genomes_homalt": 50556,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 649929,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.269,
"pos": 69105577,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.129,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_080284.3"
}
]
}