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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: 6-56128447-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56128447&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56128447,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_030820.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "NM_030820.4",
"protein_id": "NP_110447.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244728.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030820.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "ENST00000244728.10",
"protein_id": "ENSP00000244728.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244728.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1534-2298A>G",
"hgvs_p": null,
"transcript": "ENST00000370819.5",
"protein_id": "ENSP00000359855.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370819.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "NM_001318751.2",
"protein_id": "NP_001305680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318751.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1534-2298A>G",
"hgvs_p": null,
"transcript": "NM_001318752.2",
"protein_id": "NP_001305681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318752.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.232-2298A>G",
"hgvs_p": null,
"transcript": "ENST00000456983.1",
"protein_id": "ENSP00000390958.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_011514924.3",
"protein_id": "XP_011513226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514924.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_011514925.4",
"protein_id": "XP_011513227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514925.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_011514926.2",
"protein_id": "XP_011513228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514926.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_011514927.1",
"protein_id": "XP_011513229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_047419383.1",
"protein_id": "XP_047275339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "c.1543-2298A>G",
"hgvs_p": null,
"transcript": "XM_006715223.2",
"protein_id": "XP_006715286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715223.2"
},
{
"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": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "n.1767-2298A>G",
"hgvs_p": null,
"transcript": "NR_134849.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134849.2"
},
{
"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": 31,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "n.1767-2298A>G",
"hgvs_p": null,
"transcript": "NR_134850.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134850.2"
},
{
"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": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"hgvs_c": "n.1775-2298A>G",
"hgvs_p": null,
"transcript": "NR_134851.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134851.2"
}
],
"gene_symbol": "COL21A1",
"gene_hgnc_id": 17025,
"dbsnp": "rs1925166",
"frequency_reference_population": 0.5667719,
"hom_count_reference_population": 24739,
"allele_count_reference_population": 86155,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.566772,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 86155,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 24739,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.157,
"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": "NM_030820.4",
"gene_symbol": "COL21A1",
"hgnc_id": 17025,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1543-2298A>G",
"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
}