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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: 14-92071010-C-CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTGCTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92071010&ref=C&alt=CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTGCTG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92071010,
"ref": "C",
"alt": "CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTGCTG",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000644486.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.915_916insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln305_Gly306insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "NM_004993.6",
"protein_id": "NP_004984.2",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 361,
"cds_start": 915,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "ENST00000644486.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.915_916insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln305_Gly306insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000644486.2",
"protein_id": "ENSP00000496695.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 361,
"cds_start": 915,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "NM_004993.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.915_916insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln305_Gly306insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000532032.5",
"protein_id": "ENSP00000437157.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 364,
"cds_start": 915,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.870_871insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln290_Gly291insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000503767.5",
"protein_id": "ENSP00000426697.1",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 346,
"cds_start": 870,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.912_913insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln304_Gly305insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000554592.5",
"protein_id": "ENSP00000451385.1",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 328,
"cds_start": 912,
"cds_end": null,
"cds_length": 988,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.762_763insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln254_Gly255insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000393287.9",
"protein_id": "ENSP00000376965.6",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 310,
"cds_start": 762,
"cds_end": null,
"cds_length": 933,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.750_751insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln250_Gly251insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000340660.10",
"protein_id": "ENSP00000339110.6",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 306,
"cds_start": 750,
"cds_end": null,
"cds_length": 921,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.705_706insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln235_Gly236insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000429774.6",
"protein_id": "ENSP00000389376.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 291,
"cds_start": 705,
"cds_end": null,
"cds_length": 876,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.762_763insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln254_Gly255insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000553491.5",
"protein_id": "ENSP00000451996.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 277,
"cds_start": 762,
"cds_end": null,
"cds_length": 835,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQKQQQQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.705_706insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln235_Gly236insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000555381.5",
"protein_id": "ENSP00000451001.1",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 259,
"cds_start": 705,
"cds_end": null,
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"cdna_start": 727,
"cdna_end": 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": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.597_598insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln199_Gly200insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000556220.5",
"protein_id": "ENSP00000450641.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 222,
"cds_start": 597,
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"cds_length": 670,
"cdna_start": 619,
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"cdna_length": 692,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.378_379insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln126_Gly127insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000502250.5",
"protein_id": "ENSP00000425322.1",
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"cds_start": 378,
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},
{
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"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.378_379insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln126_Gly127insGlnGlnGlnGlnLysGlnGlnGlnGlnGlnGlnGlnGlnGln",
"transcript": "ENST00000557311.6",
"protein_id": "ENSP00000450642.2",
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"cds_start": 378,
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"feature": null
},
{
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"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ATXN3",
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"hgvs_c": "c.378_*1insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000554672.6",
"protein_id": "ENSP00000451417.2",
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"cds_start": 378,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*589_*590insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000359366.10",
"protein_id": "ENSP00000352324.5",
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.653_654insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553287.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.949_950insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
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"transcript": "ENST00000553309.5",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*730_*731insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553488.5",
"protein_id": "ENSP00000452461.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.838_839insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553498.5",
"protein_id": 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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*374_*375insCAGCAGCAGCAGAAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553570.5",
"protein_id": "ENSP00000451405.1",
"transcript_support_level": 1,
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"mane_select": null,
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{
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}
],
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{
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"verdict": "Likely_benign",
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{
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}