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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: 1-225367810-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225367810&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225367810,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000682510.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12096C>T",
"hgvs_p": "p.Ala4032Ala",
"transcript": "NM_001367479.1",
"protein_id": "NP_001354408.1",
"transcript_support_level": null,
"aa_start": 4032,
"aa_end": null,
"aa_length": 4617,
"cds_start": 12096,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 12290,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "ENST00000682510.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12096C>T",
"hgvs_p": "p.Ala4032Ala",
"transcript": "ENST00000682510.1",
"protein_id": "ENSP00000508305.1",
"transcript_support_level": null,
"aa_start": 4032,
"aa_end": null,
"aa_length": 4617,
"cds_start": 12096,
"cds_end": null,
"cds_length": 13854,
"cdna_start": 12290,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": "NM_001367479.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.*463C>T",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"transcript_support_level": 1,
"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": 8488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "n.*463C>T",
"hgvs_p": null,
"transcript": "ENST00000327794.10",
"protein_id": "ENSP00000328980.6",
"transcript_support_level": 1,
"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": 8488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11817C>T",
"hgvs_p": "p.Ala3939Ala",
"transcript": "ENST00000430092.5",
"protein_id": "ENSP00000414402.1",
"transcript_support_level": 5,
"aa_start": 3939,
"aa_end": null,
"aa_length": 4515,
"cds_start": 11817,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 12032,
"cdna_end": null,
"cdna_length": 13763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11817C>T",
"hgvs_p": "p.Ala3939Ala",
"transcript": "ENST00000439375.6",
"protein_id": "ENSP00000392061.2",
"transcript_support_level": 5,
"aa_start": 3939,
"aa_end": null,
"aa_length": 4515,
"cds_start": 11817,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 11817,
"cdna_end": null,
"cdna_length": 13548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12093C>T",
"hgvs_p": "p.Ala4031Ala",
"transcript": "XM_011544058.3",
"protein_id": "XP_011542360.1",
"transcript_support_level": null,
"aa_start": 4031,
"aa_end": null,
"aa_length": 4616,
"cds_start": 12093,
"cds_end": null,
"cds_length": 13851,
"cdna_start": 12308,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12048C>T",
"hgvs_p": "p.Ala4016Ala",
"transcript": "XM_011544059.3",
"protein_id": "XP_011542361.1",
"transcript_support_level": null,
"aa_start": 4016,
"aa_end": null,
"aa_length": 4601,
"cds_start": 12048,
"cds_end": null,
"cds_length": 13806,
"cdna_start": 12263,
"cdna_end": null,
"cdna_length": 14038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12021C>T",
"hgvs_p": "p.Ala4007Ala",
"transcript": "XM_017000295.2",
"protein_id": "XP_016855784.1",
"transcript_support_level": null,
"aa_start": 4007,
"aa_end": null,
"aa_length": 4592,
"cds_start": 12021,
"cds_end": null,
"cds_length": 13779,
"cdna_start": 12236,
"cdna_end": null,
"cdna_length": 14011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12003C>T",
"hgvs_p": "p.Ala4001Ala",
"transcript": "XM_006711735.4",
"protein_id": "XP_006711798.1",
"transcript_support_level": null,
"aa_start": 4001,
"aa_end": null,
"aa_length": 4586,
"cds_start": 12003,
"cds_end": null,
"cds_length": 13761,
"cdna_start": 12218,
"cdna_end": null,
"cdna_length": 13993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11997C>T",
"hgvs_p": "p.Ala3999Ala",
"transcript": "XM_017000296.2",
"protein_id": "XP_016855785.1",
"transcript_support_level": null,
"aa_start": 3999,
"aa_end": null,
"aa_length": 4584,
"cds_start": 11997,
"cds_end": null,
"cds_length": 13755,
"cdna_start": 12212,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11991C>T",
"hgvs_p": "p.Ala3997Ala",
"transcript": "XM_011544061.3",
"protein_id": "XP_011542363.1",
"transcript_support_level": null,
"aa_start": 3997,
"aa_end": null,
"aa_length": 4582,
"cds_start": 11991,
"cds_end": null,
"cds_length": 13749,
"cdna_start": 12206,
"cdna_end": null,
"cdna_length": 13981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11979C>T",
"hgvs_p": "p.Ala3993Ala",
"transcript": "XM_017000297.2",
"protein_id": "XP_016855786.1",
"transcript_support_level": null,
"aa_start": 3993,
"aa_end": null,
"aa_length": 4578,
"cds_start": 11979,
"cds_end": null,
"cds_length": 13737,
"cdna_start": 12194,
"cdna_end": null,
"cdna_length": 13969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12096C>T",
"hgvs_p": "p.Ala4032Ala",
"transcript": "XM_011544062.3",
"protein_id": "XP_011542364.1",
"transcript_support_level": null,
"aa_start": 4032,
"aa_end": null,
"aa_length": 4565,
"cds_start": 12096,
"cds_end": null,
"cds_length": 13698,
"cdna_start": 12311,
"cdna_end": null,
"cdna_length": 13930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11937C>T",
"hgvs_p": "p.Ala3979Ala",
"transcript": "XM_011544063.3",
"protein_id": "XP_011542365.1",
"transcript_support_level": null,
"aa_start": 3979,
"aa_end": null,
"aa_length": 4564,
"cds_start": 11937,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 12152,
"cdna_end": null,
"cdna_length": 13927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11928C>T",
"hgvs_p": "p.Ala3976Ala",
"transcript": "XM_011544064.3",
"protein_id": "XP_011542366.1",
"transcript_support_level": null,
"aa_start": 3976,
"aa_end": null,
"aa_length": 4561,
"cds_start": 11928,
"cds_end": null,
"cds_length": 13686,
"cdna_start": 12143,
"cdna_end": null,
"cdna_length": 13918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11904C>T",
"hgvs_p": "p.Ala3968Ala",
"transcript": "XM_011544065.3",
"protein_id": "XP_011542367.1",
"transcript_support_level": null,
"aa_start": 3968,
"aa_end": null,
"aa_length": 4553,
"cds_start": 11904,
"cds_end": null,
"cds_length": 13662,
"cdna_start": 12119,
"cdna_end": null,
"cdna_length": 13894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11880C>T",
"hgvs_p": "p.Ala3960Ala",
"transcript": "XM_011544066.3",
"protein_id": "XP_011542368.1",
"transcript_support_level": null,
"aa_start": 3960,
"aa_end": null,
"aa_length": 4545,
"cds_start": 11880,
"cds_end": null,
"cds_length": 13638,
"cdna_start": 12095,
"cdna_end": null,
"cdna_length": 13870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.12096C>T",
"hgvs_p": "p.Ala4032Ala",
"transcript": "XM_047445624.1",
"protein_id": "XP_047301580.1",
"transcript_support_level": null,
"aa_start": 4032,
"aa_end": null,
"aa_length": 4504,
"cds_start": 12096,
"cds_end": null,
"cds_length": 13515,
"cdna_start": 12311,
"cdna_end": null,
"cdna_length": 13805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11742C>T",
"hgvs_p": "p.Ala3914Ala",
"transcript": "XM_011544069.3",
"protein_id": "XP_011542371.1",
"transcript_support_level": null,
"aa_start": 3914,
"aa_end": null,
"aa_length": 4499,
"cds_start": 11742,
"cds_end": null,
"cds_length": 13500,
"cdna_start": 11957,
"cdna_end": null,
"cdna_length": 13732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11718C>T",
"hgvs_p": "p.Ala3906Ala",
"transcript": "XM_011544070.3",
"protein_id": "XP_011542372.1",
"transcript_support_level": null,
"aa_start": 3906,
"aa_end": null,
"aa_length": 4491,
"cds_start": 11718,
"cds_end": null,
"cds_length": 13476,
"cdna_start": 11933,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH14",
"gene_hgnc_id": 2945,
"hgvs_c": "c.11568C>T",
"hgvs_p": "p.Ala3856Ala",
"transcript": "XM_011544071.3",
"protein_id": "XP_011542373.1",
"transcript_support_level": null,
"aa_start": 3856,
"aa_end": null,
"aa_length": 4441,
"cds_start": 11568,
"cds_end": null,
"cds_length": 13326,
"cdna_start": 11783,
"cdna_end": null,
"cdna_length": 13558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
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"gene_symbol": "DNAH14",
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}
],
"gene_symbol": "DNAH14",
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"dbsnp": "rs11578981",
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"computational_score_selected": -0.5699999928474426,
"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,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.806,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000682510.1",
"gene_symbol": "DNAH14",
"hgnc_id": 2945,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12096C>T",
"hgvs_p": "p.Ala4032Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}