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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: 6-152362252-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152362252&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152362252,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 3406,
"aa_end": null,
"aa_length": 8797,
"cds_start": 10217,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 10782,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 3406,
"aa_end": null,
"aa_length": 8797,
"cds_start": 10217,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 10782,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8749,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27475,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.3355A>C",
"hgvs_p": null,
"transcript": "ENST00000471834.1",
"protein_id": null,
"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": 7229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8749,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8846,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 65,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8846,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 10803,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8846,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 10635,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8845,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8842,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8841,
"cds_start": 10238,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 3406,
"aa_end": null,
"aa_length": 8839,
"cds_start": 10217,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 10693,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 3406,
"aa_end": null,
"aa_length": 8839,
"cds_start": 10217,
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"cdna_start": 10614,
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"cdna_length": 27666,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10211A>C",
"hgvs_p": "p.Asp3404Ala",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 3404,
"aa_end": null,
"aa_length": 8837,
"cds_start": 10211,
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"cdna_start": 10335,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 3413,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8831,
"cds_start": 10238,
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"cdna_start": 10714,
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"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10187A>C",
"hgvs_p": "p.Asp3396Ala",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 3396,
"aa_end": null,
"aa_length": 8829,
"cds_start": 10187,
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"cds_length": 26490,
"cdna_start": 10663,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10187A>C",
"hgvs_p": "p.Asp3396Ala",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10238A>C",
"hgvs_p": "p.Asp3413Ala",
"transcript": "XM_006715413.3",
"protein_id": "XP_006715476.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 8823,
"cds_start": 10238,
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"cdna_start": 10714,
"cdna_end": null,
"cdna_length": 27697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.10166A>C",
"hgvs_p": "p.Asp3389Ala",
"transcript": "XM_006715414.2",
"protein_id": "XP_006715477.1",
"transcript_support_level": null,
"aa_start": 3389,
"aa_end": null,
"aa_length": 8822,
"cds_start": 10166,
"cds_end": null,
"cds_length": 26469,
"cdna_start": 10642,
"cdna_end": null,
"cdna_length": 27694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
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}
],
"gene_symbol": "SYNE1",
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"dbsnp": "rs546645393",
"frequency_reference_population": 0.00001734614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.00000889259,
"gnomad_genomes_af": 0.0000984898,
"gnomad_exomes_ac": 13,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07613247632980347,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.149,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.888,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.10217A>C",
"hgvs_p": "p.Asp3406Ala"
}
],
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}