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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: 6-75086648-G-GTATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75086648&ref=G&alt=GTATA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75086648,
"ref": "G",
"alt": "GTATA",
"effect": "intron_variant",
"transcript": "NM_001424113.1",
"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": 66,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9182-95_9182-92dupTATA",
"hgvs_p": null,
"transcript": "NM_004370.6",
"protein_id": "NP_004361.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3063,
"cds_start": null,
"cds_end": null,
"cds_length": 9192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322507.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004370.6"
},
{
"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": 66,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9182-92_9182-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000322507.13",
"protein_id": "ENSP00000325146.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3063,
"cds_start": null,
"cds_end": null,
"cds_length": 9192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004370.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322507.13"
},
{
"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": 51,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.5690-92_5690-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000345356.10",
"protein_id": "ENSP00000305147.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345356.10"
},
{
"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": 66,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9181+925_9181+928dupTATA",
"hgvs_p": null,
"transcript": "NM_001424113.1",
"protein_id": "NP_001411042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3118,
"cds_start": null,
"cds_end": null,
"cds_length": 9357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424113.1"
},
{
"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": 65,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9161-95_9161-92dupTATA",
"hgvs_p": null,
"transcript": "NM_001424114.1",
"protein_id": "NP_001411043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3056,
"cds_start": null,
"cds_end": null,
"cds_length": 9171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424114.1"
},
{
"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": 63,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.8954-92_8954-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000416123.6",
"protein_id": "ENSP00000412864.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2987,
"cds_start": null,
"cds_end": null,
"cds_length": 8964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416123.6"
},
{
"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": 65,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.8909-95_8909-92dupTATA",
"hgvs_p": null,
"transcript": "NM_001424115.1",
"protein_id": "NP_001411044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2972,
"cds_start": null,
"cds_end": null,
"cds_length": 8919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424115.1"
},
{
"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": 65,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.8909-92_8909-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000898574.1",
"protein_id": "ENSP00000568633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2972,
"cds_start": null,
"cds_end": null,
"cds_length": 8919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898574.1"
},
{
"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": 51,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.5689+925_5689+928dupTATA",
"hgvs_p": null,
"transcript": "NM_001424116.1",
"protein_id": "NP_001411045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1954,
"cds_start": null,
"cds_end": null,
"cds_length": 5865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424116.1"
},
{
"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": 51,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.5690-95_5690-92dupTATA",
"hgvs_p": null,
"transcript": "NM_080645.3",
"protein_id": "NP_542376.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080645.3"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.2095+928_2095+929insTATA",
"hgvs_p": null,
"transcript": "ENST00000425443.6",
"protein_id": "ENSP00000399812.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425443.6"
},
{
"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": 66,
"intron_rank": 65,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9181+925_9181+928dupTATA",
"hgvs_p": null,
"transcript": "XM_047418184.1",
"protein_id": "XP_047274140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3118,
"cds_start": null,
"cds_end": null,
"cds_length": 9357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418184.1"
},
{
"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": 65,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.9145+925_9145+928dupTATA",
"hgvs_p": null,
"transcript": "XM_017010252.3",
"protein_id": "XP_016865741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3106,
"cds_start": null,
"cds_end": null,
"cds_length": 9321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010252.3"
},
{
"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": 65,
"intron_rank": 64,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.8908+925_8908+928dupTATA",
"hgvs_p": null,
"transcript": "XM_011535435.2",
"protein_id": "XP_011533737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": null,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535435.2"
},
{
"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": 51,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.5690-95_5690-92dupTATA",
"hgvs_p": null,
"transcript": "XM_047418186.1",
"protein_id": "XP_047274142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1899,
"cds_start": null,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418186.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "n.591-92_591-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000680981.1",
"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": "retained_intron",
"feature": "ENST00000680981.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "n.965-92_965-91insTATA",
"hgvs_p": null,
"transcript": "ENST00000681086.1",
"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": "retained_intron",
"feature": "ENST00000681086.1"
}
],
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"dbsnp": "rs61611291",
"frequency_reference_population": 0.011922071,
"hom_count_reference_population": 101,
"allele_count_reference_population": 3444,
"gnomad_exomes_af": 0.000957321,
"gnomad_genomes_af": 0.0233279,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 3303,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 101,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001424113.1",
"gene_symbol": "COL12A1",
"hgnc_id": 2188,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.9181+925_9181+928dupTATA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}