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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: 6-70232616-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70232616&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70232616,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357250.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2470C>T",
"hgvs_p": "p.Pro824Ser",
"transcript": "NM_001851.6",
"protein_id": "NP_001842.3",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 921,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "ENST00000357250.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2470C>T",
"hgvs_p": "p.Pro824Ser",
"transcript": "ENST00000357250.11",
"protein_id": "ENSP00000349790.6",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 921,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "NM_001851.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000320755.12",
"protein_id": "ENSP00000315252.7",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 678,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Pro591Ser",
"transcript": "NM_001377289.1",
"protein_id": "NP_001364218.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 688,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Pro591Ser",
"transcript": "ENST00000683980.2",
"protein_id": "ENSP00000506990.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 688,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_078485.4",
"protein_id": "NP_511040.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 678,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Pro535Ser",
"transcript": "ENST00000683758.1",
"protein_id": "ENSP00000508147.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 632,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Pro532Ser",
"transcript": "NM_001377290.1",
"protein_id": "NP_001364219.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 629,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.2500C>T",
"hgvs_p": "p.Pro834Ser",
"transcript": "XM_011535429.4",
"protein_id": "XP_011533731.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 931,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1951C>T",
"hgvs_p": "p.Pro651Ser",
"transcript": "XM_017010246.3",
"protein_id": "XP_016865735.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 748,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Pro567Ser",
"transcript": "XM_047418179.1",
"protein_id": "XP_047274135.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 664,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Pro557Ser",
"transcript": "XM_047418180.1",
"protein_id": "XP_047274136.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 654,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Pro407Ser",
"transcript": "XM_017010247.3",
"protein_id": "XP_016865736.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 504,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1874,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1156C>T",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1175C>T",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1844,
"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": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1490C>T",
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.2464C>T",
"hgvs_p": null,
"transcript": "ENST00000493682.7",
"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": 3513,
"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": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*1507C>T",
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1520C>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.3207C>T",
"hgvs_p": null,
"transcript": "ENST00000683602.1",
"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": 4339,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1812C>T",
"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": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.1991C>T",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL9A1",
"gene_hgnc_id": 2217,
"hgvs_c": "n.*1507C>T",
"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,
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},
{
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],
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357250.11",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR,AD,Unknown",
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{
"score": 2,
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"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000522264.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82-9368G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}