← Back to variant description
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: 6-70274733-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70274733&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70274733,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000357250.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "NM_001851.6",
"protein_id": "NP_001842.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 921,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "ENST00000357250.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "ENST00000357250.11",
"protein_id": "ENSP00000349790.6",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 921,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "NM_001851.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "ENST00000320755.12",
"protein_id": "ENSP00000315252.7",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 678,
"cds_start": 286,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "NM_001377289.1",
"protein_id": "NP_001364218.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 688,
"cds_start": 286,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "ENST00000683980.2",
"protein_id": "ENSP00000506990.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 688,
"cds_start": 286,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "NM_078485.4",
"protein_id": "NP_511040.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 678,
"cds_start": 286,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "ENST00000683758.1",
"protein_id": "ENSP00000508147.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 632,
"cds_start": 286,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "NM_001377290.1",
"protein_id": "NP_001364219.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 629,
"cds_start": 286,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "XM_011535429.4",
"protein_id": "XP_011533731.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 931,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Ser156Pro",
"transcript": "XM_017010246.3",
"protein_id": "XP_016865735.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 748,
"cds_start": 466,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "XM_047418179.1",
"protein_id": "XP_047274135.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 664,
"cds_start": 286,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "XM_047418180.1",
"protein_id": "XP_047274136.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 654,
"cds_start": 286,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.446T>C",
"hgvs_p": null,
"transcript": "ENST00000470652.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.161T>C",
"hgvs_p": null,
"transcript": "ENST00000489611.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*52T>C",
"hgvs_p": null,
"transcript": "ENST00000644493.1",
"protein_id": "ENSP00000495638.1",
"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": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.357T>C",
"hgvs_p": null,
"transcript": "ENST00000684176.1",
"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": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.536T>C",
"hgvs_p": null,
"transcript": "NR_165185.1",
"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": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.-267T>C",
"hgvs_p": null,
"transcript": "XM_017010247.3",
"protein_id": "XP_016865736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*52T>C",
"hgvs_p": null,
"transcript": "ENST00000644493.1",
"protein_id": "ENSP00000495638.1",
"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": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"dbsnp": "rs592121",
"frequency_reference_population": 0.39594647,
"hom_count_reference_population": 130770,
"allele_count_reference_population": 636735,
"gnomad_exomes_af": 0.388788,
"gnomad_genomes_af": 0.464543,
"gnomad_exomes_ac": 566143,
"gnomad_genomes_ac": 70592,
"gnomad_exomes_homalt": 112919,
"gnomad_genomes_homalt": 17851,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000033340893423883244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.378,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0476,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.514,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357250.11",
"gene_symbol": "COL9A1",
"hgnc_id": 2217,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro"
}
],
"clinvar_disease": " 6, multiple,Epiphyseal dysplasia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Epiphyseal dysplasia, multiple, 6|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}