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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: 6-70234959-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70234959&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70234959,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000357250.11",
"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": 38,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2113-19G>A",
"hgvs_p": null,
"transcript": "NM_001851.6",
"protein_id": "NP_001842.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "ENST00000357250.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2113-19G>A",
"hgvs_p": null,
"transcript": "ENST00000357250.11",
"protein_id": "ENSP00000349790.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "NM_001851.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1384-19G>A",
"hgvs_p": null,
"transcript": "ENST00000320755.12",
"protein_id": "ENSP00000315252.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1144G>A",
"hgvs_p": null,
"transcript": "ENST00000682313.1",
"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": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1414-19G>A",
"hgvs_p": null,
"transcript": "NM_001377289.1",
"protein_id": "NP_001364218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1414-19G>A",
"hgvs_p": null,
"transcript": "ENST00000683980.2",
"protein_id": "ENSP00000506990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1384-19G>A",
"hgvs_p": null,
"transcript": "NM_078485.4",
"protein_id": "NP_511040.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1393-366G>A",
"hgvs_p": null,
"transcript": "ENST00000683758.1",
"protein_id": "ENSP00000508147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1384-366G>A",
"hgvs_p": null,
"transcript": "NM_001377290.1",
"protein_id": "NP_001364219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.799-19G>A",
"hgvs_p": null,
"transcript": "ENST00000360859.12",
"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": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*353-19G>A",
"hgvs_p": null,
"transcript": "ENST00000447041.6",
"protein_id": "ENSP00000507959.1",
"transcript_support_level": 4,
"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": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.818-19G>A",
"hgvs_p": null,
"transcript": "ENST00000486080.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1844,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1133-19G>A",
"hgvs_p": null,
"transcript": "ENST00000489611.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1940,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.2107-19G>A",
"hgvs_p": null,
"transcript": "ENST00000493682.7",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253809",
"gene_hgnc_id": null,
"hgvs_c": "n.82-7025C>T",
"hgvs_p": null,
"transcript": "ENST00000522264.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*1150-19G>A",
"hgvs_p": null,
"transcript": "ENST00000644493.1",
"protein_id": "ENSP00000495638.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.2850-19G>A",
"hgvs_p": null,
"transcript": "ENST00000683602.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1455-19G>A",
"hgvs_p": null,
"transcript": "ENST00000684176.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1634-19G>A",
"hgvs_p": null,
"transcript": "NR_165185.1",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2143-19G>A",
"hgvs_p": null,
"transcript": "XM_011535429.4",
"protein_id": "XP_011533731.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1594-19G>A",
"hgvs_p": null,
"transcript": "XM_017010246.3",
"protein_id": "XP_016865735.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1342-19G>A",
"hgvs_p": null,
"transcript": "XM_047418179.1",
"protein_id": "XP_047274135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1312-19G>A",
"hgvs_p": null,
"transcript": "XM_047418180.1",
"protein_id": "XP_047274136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
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"cds_length": 1965,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.862-19G>A",
"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
}
],
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"dbsnp": "rs187218937",
"frequency_reference_population": 0.00016727734,
"hom_count_reference_population": 0,
"allele_count_reference_population": 270,
"gnomad_exomes_af": 0.000110141,
"gnomad_genomes_af": 0.000715589,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 109,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.025,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000357250.11",
"gene_symbol": "COL9A1",
"hgnc_id": 2217,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.2113-19G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000522264.1",
"gene_symbol": "ENSG00000253809",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82-7025C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}