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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: 6-70216926-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70216926&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "COL9A1",
"hgnc_id": 2217,
"hgvs_c": "c.2737C>T",
"hgvs_p": "p.Arg913*",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001851.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2737,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001851.6",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2737C>T",
"hgvs_p": "p.Arg913*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357250.11",
"protein_coding": true,
"protein_id": "NP_001842.3",
"strand": false,
"transcript": "NM_001851.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2737,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000357250.11",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2737C>T",
"hgvs_p": "p.Arg913*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001851.6",
"protein_coding": true,
"protein_id": "ENSP00000349790.6",
"strand": false,
"transcript": "ENST00000357250.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2037,
"cds_start": 2008,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000320755.12",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2008C>T",
"hgvs_p": "p.Arg670*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315252.7",
"strand": false,
"transcript": "ENST00000320755.12",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2038,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001377289.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364218.1",
"strand": false,
"transcript": "NM_001377289.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2038,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000683980.2",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506990.1",
"strand": false,
"transcript": "ENST00000683980.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2037,
"cds_start": 2008,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_078485.4",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2008C>T",
"hgvs_p": "p.Arg670*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_511040.2",
"strand": false,
"transcript": "NM_078485.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1870,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000683758.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508147.1",
"strand": false,
"transcript": "ENST00000683758.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1861,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001377290.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.1861C>T",
"hgvs_p": "p.Arg621*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364219.1",
"strand": false,
"transcript": "NM_001377290.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 931,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4792,
"cdna_start": 2927,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2767,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_011535429.4",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2767C>T",
"hgvs_p": "p.Arg923*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533731.1",
"strand": false,
"transcript": "XM_011535429.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2218,
"consequences": [
"stop_gained"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_017010246.3",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Arg740*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865735.1",
"strand": false,
"transcript": "XM_017010246.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1966,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047418179.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274135.1",
"strand": false,
"transcript": "XM_047418179.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1936,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047418180.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.1936C>T",
"hgvs_p": "p.Arg646*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274136.1",
"strand": false,
"transcript": "XM_047418180.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1486,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017010247.3",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Arg496*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865736.1",
"strand": false,
"transcript": "XM_017010247.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000360859.12",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.1423C>T",
"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": "ENST00000360859.12",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000486080.5",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.1442C>T",
"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": "ENST00000486080.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000489611.5",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.1757C>T",
"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": "ENST00000489611.5",
"transcript_support_level": 2
},
{
"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": 3513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000493682.7",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.2731C>T",
"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": "ENST00000493682.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000644493.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.*1774C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495638.1",
"strand": false,
"transcript": "ENST00000644493.1",
"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": 2545,
"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": "ENST00000682313.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.1787C>T",
"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": "ENST00000682313.1",
"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": 4339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000683602.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.3474C>T",
"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": "ENST00000683602.1",
"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": 2849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000684176.1",
"gene_hgnc_id": 2217,
"gene_symbol": "COL9A1",
"hgvs_c": "n.2079C>T",
"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": "ENST00000684176.1",
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{
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{
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],
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"phenotype_combined": "not provided",
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}
]
}