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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-CCTGCTGCTGCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92071010&ref=CCTGCTGCTGCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92071010,
"ref": "CCTGCTGCTGCTG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_004993.6",
"consequences": [
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.904_915delCAGCAGCAGCAG",
"hgvs_p": "p.Gln302_Gln305del",
"transcript": "NM_004993.6",
"protein_id": "NP_004984.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 361,
"cds_start": 904,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "ENST00000644486.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004993.6"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.904_915delCAGCAGCAGCAG",
"hgvs_p": "p.Gln302_Gln305del",
"transcript": "ENST00000644486.2",
"protein_id": "ENSP00000496695.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 361,
"cds_start": 904,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "NM_004993.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644486.2"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.904_915delCAGCAGCAGCAG",
"hgvs_p": "p.Gln302_Gln305del",
"transcript": "ENST00000532032.5",
"protein_id": "ENSP00000437157.1",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 364,
"cds_start": 904,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532032.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.859_870delCAGCAGCAGCAG",
"hgvs_p": "p.Gln287_Gln290del",
"transcript": "ENST00000503767.5",
"protein_id": "ENSP00000426697.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 346,
"cds_start": 859,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503767.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.901_912delCAGCAGCAGCAG",
"hgvs_p": "p.Gln301_Gln304del",
"transcript": "ENST00000554592.5",
"protein_id": "ENSP00000451385.1",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 328,
"cds_start": 901,
"cds_end": null,
"cds_length": 988,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554592.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.751_762delCAGCAGCAGCAG",
"hgvs_p": "p.Gln251_Gln254del",
"transcript": "ENST00000393287.9",
"protein_id": "ENSP00000376965.6",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 310,
"cds_start": 751,
"cds_end": null,
"cds_length": 933,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393287.9"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.739_750delCAGCAGCAGCAG",
"hgvs_p": "p.Gln247_Gln250del",
"transcript": "ENST00000340660.10",
"protein_id": "ENSP00000339110.6",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 306,
"cds_start": 739,
"cds_end": null,
"cds_length": 921,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340660.10"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.694_705delCAGCAGCAGCAG",
"hgvs_p": "p.Gln232_Gln235del",
"transcript": "ENST00000429774.6",
"protein_id": "ENSP00000389376.3",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 291,
"cds_start": 694,
"cds_end": null,
"cds_length": 876,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429774.6"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.751_762delCAGCAGCAGCAG",
"hgvs_p": "p.Gln251_Gln254del",
"transcript": "ENST00000553491.5",
"protein_id": "ENSP00000451996.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 277,
"cds_start": 751,
"cds_end": null,
"cds_length": 835,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553491.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.694_705delCAGCAGCAGCAG",
"hgvs_p": "p.Gln232_Gln235del",
"transcript": "ENST00000555381.5",
"protein_id": "ENSP00000451001.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 694,
"cds_end": null,
"cds_length": 781,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555381.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.586_597delCAGCAGCAGCAG",
"hgvs_p": "p.Gln196_Gln199del",
"transcript": "ENST00000556220.5",
"protein_id": "ENSP00000450641.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 222,
"cds_start": 586,
"cds_end": null,
"cds_length": 670,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556220.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.367_378delCAGCAGCAGCAG",
"hgvs_p": "p.Gln123_Gln126del",
"transcript": "ENST00000502250.5",
"protein_id": "ENSP00000425322.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 182,
"cds_start": 367,
"cds_end": null,
"cds_length": 549,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502250.5"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.367_378delCAGCAGCAGCAG",
"hgvs_p": "p.Gln123_Gln126del",
"transcript": "ENST00000557311.6",
"protein_id": "ENSP00000450642.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 149,
"cds_start": 367,
"cds_end": null,
"cds_length": 451,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557311.6"
},
{
"aa_ref": "QQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_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": "c.367_378delCAGCAGCAGCAG",
"hgvs_p": "p.Gln123_Gln126del",
"transcript": "ENST00000554672.6",
"protein_id": "ENSP00000451417.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 125,
"cds_start": 367,
"cds_end": null,
"cds_length": 378,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"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,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*578_*589delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000359366.10",
"protein_id": "ENSP00000352324.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000359366.10"
},
{
"aa_ref": null,
"aa_alt": null,
"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,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.642_653delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553287.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"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": "n.938_949delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553309.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*719_*730delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553488.5",
"protein_id": "ENSP00000452461.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000553488.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.827_838delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553498.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553498.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*363_*374delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553570.5",
"protein_id": "ENSP00000451405.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000553570.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.785_796delCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000553686.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
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"spliceai_max_prediction": null,
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"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_004993.6",
"gene_symbol": "ATXN3",
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"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.Gln302_Gln305del"
},
{
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"verdict": "Uncertain_significance",
"transcript": "ENST00000797940.1",
"gene_symbol": "ENSG00000303901",
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"effects": [
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],
"inheritance_mode": "",
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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
}