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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: 6-75142113-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75142113&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75142113,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001424113.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "NM_004370.6",
"protein_id": "NP_004361.3",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3063,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9192,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 11725,
"mane_select": "ENST00000322507.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004370.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "ENST00000322507.13",
"protein_id": "ENSP00000325146.8",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3063,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9192,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 11725,
"mane_select": "NM_004370.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322507.13"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.1384T>G",
"hgvs_p": "p.Ser462Ala",
"transcript": "ENST00000345356.10",
"protein_id": "ENSP00000305147.9",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 1899,
"cds_start": 1384,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345356.10"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "NM_001424113.1",
"protein_id": "NP_001411042.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3118,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 10533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424113.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "ENST00000483888.6",
"protein_id": "ENSP00000421216.1",
"transcript_support_level": 5,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3062,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9189,
"cdna_start": 4957,
"cdna_end": null,
"cdna_length": 9637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483888.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "NM_001424114.1",
"protein_id": "NP_001411043.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3056,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424114.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "ENST00000416123.6",
"protein_id": "ENSP00000412864.2",
"transcript_support_level": 5,
"aa_start": 1626,
"aa_end": null,
"aa_length": 2987,
"cds_start": 4876,
"cds_end": null,
"cds_length": 8964,
"cdna_start": 4876,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416123.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4603T>G",
"hgvs_p": "p.Ser1535Ala",
"transcript": "NM_001424115.1",
"protein_id": "NP_001411044.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 2972,
"cds_start": 4603,
"cds_end": null,
"cds_length": 8919,
"cdna_start": 4915,
"cdna_end": null,
"cdna_length": 11452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424115.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4603T>G",
"hgvs_p": "p.Ser1535Ala",
"transcript": "ENST00000898574.1",
"protein_id": "ENSP00000568633.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 2972,
"cds_start": 4603,
"cds_end": null,
"cds_length": 8919,
"cdna_start": 5113,
"cdna_end": null,
"cdna_length": 10080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898574.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.1384T>G",
"hgvs_p": "p.Ser462Ala",
"transcript": "NM_001424116.1",
"protein_id": "NP_001411045.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1954,
"cds_start": 1384,
"cds_end": null,
"cds_length": 5865,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 7041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424116.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.1384T>G",
"hgvs_p": "p.Ser462Ala",
"transcript": "NM_080645.3",
"protein_id": "NP_542376.2",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1899,
"cds_start": 1384,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 8233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080645.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.1099T>G",
"hgvs_p": "p.Ser367Ala",
"transcript": "ENST00000419671.1",
"protein_id": "ENSP00000393217.1",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 636,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1913,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419671.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala",
"transcript": "XM_047418184.1",
"protein_id": "XP_047274140.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 3118,
"cds_start": 4876,
"cds_end": null,
"cds_length": 9357,
"cdna_start": 5238,
"cdna_end": null,
"cdna_length": 10583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418184.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4840T>G",
"hgvs_p": "p.Ser1614Ala",
"transcript": "XM_017010252.3",
"protein_id": "XP_016865741.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 3106,
"cds_start": 4840,
"cds_end": null,
"cds_length": 9321,
"cdna_start": 5435,
"cdna_end": null,
"cdna_length": 10780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010252.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.4603T>G",
"hgvs_p": "p.Ser1535Ala",
"transcript": "XM_011535435.2",
"protein_id": "XP_011533737.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 3027,
"cds_start": 4603,
"cds_end": null,
"cds_length": 9084,
"cdna_start": 4915,
"cdna_end": null,
"cdna_length": 10260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535435.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"hgvs_c": "c.1384T>G",
"hgvs_p": "p.Ser462Ala",
"transcript": "XM_047418186.1",
"protein_id": "XP_047274142.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1899,
"cds_start": 1384,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418186.1"
}
],
"gene_symbol": "COL12A1",
"gene_hgnc_id": 2188,
"dbsnp": "rs77654847",
"frequency_reference_population": 0.00068519457,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1106,
"gnomad_exomes_af": 0.000355717,
"gnomad_genomes_af": 0.00384757,
"gnomad_exomes_ac": 520,
"gnomad_genomes_ac": 586,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008573293685913086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.225,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001424113.1",
"gene_symbol": "COL12A1",
"hgnc_id": 2188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4876T>G",
"hgvs_p": "p.Ser1626Ala"
}
],
"clinvar_disease": "Bethlem myopathy 2,Ullrich congenital muscular dystrophy 2,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}