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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: 6-152262123-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152262123&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"hgvs_c": "c.18881A>T",
"hgvs_p": "p.Gln6294Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_182961.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_score": -12,
"allele_count_reference_population": 336,
"alphamissense_prediction": null,
"alphamissense_score": 0.1228,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "6",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,SYNE1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008591949939727783,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "Q",
"aa_start": 6294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 19446,
"cds_end": null,
"cds_length": 26394,
"cds_start": 18881,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "NM_182961.4",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18881A>T",
"hgvs_p": "p.Gln6294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367255.10",
"protein_coding": true,
"protein_id": "NP_892006.3",
"strand": false,
"transcript": "NM_182961.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8797,
"aa_ref": "Q",
"aa_start": 6294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 27708,
"cdna_start": 19446,
"cds_end": null,
"cds_length": 26394,
"cds_start": 18881,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "ENST00000367255.10",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18881A>T",
"hgvs_p": "p.Gln6294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182961.4",
"protein_coding": true,
"protein_id": "ENSP00000356224.5",
"strand": false,
"transcript": "ENST00000367255.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "Q",
"aa_start": 6223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 19144,
"cds_end": null,
"cds_length": 26250,
"cds_start": 18668,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "ENST00000423061.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18668A>T",
"hgvs_p": "p.Gln6223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396024.1",
"strand": false,
"transcript": "ENST00000423061.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000367256.9",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.2573A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000367256.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 10634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 59,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409694.6",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "n.2465A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409694.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8749,
"aa_ref": "Q",
"aa_start": 6223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27475,
"cdna_start": 19144,
"cds_end": null,
"cds_length": 26250,
"cds_start": 18668,
"consequences": [
"missense_variant"
],
"exon_count": 146,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "NM_033071.5",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18668A>T",
"hgvs_p": "p.Gln6223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149062.2",
"strand": false,
"transcript": "NM_033071.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "Q",
"aa_start": 6306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27766,
"cdna_start": 19393,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18917,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_006715407.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18917A>T",
"hgvs_p": "p.Gln6306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715470.1",
"strand": false,
"transcript": "XM_006715407.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "Q",
"aa_start": 6306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27855,
"cdna_start": 19482,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18917,
"consequences": [
"missense_variant"
],
"exon_count": 149,
"exon_rank": 102,
"exon_rank_end": null,
"feature": "XM_017010608.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18917A>T",
"hgvs_p": "p.Gln6306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866097.1",
"strand": false,
"transcript": "XM_017010608.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8846,
"aa_ref": "Q",
"aa_start": 6306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27687,
"cdna_start": 19314,
"cds_end": null,
"cds_length": 26541,
"cds_start": 18917,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_017010609.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18917A>T",
"hgvs_p": "p.Gln6306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866098.1",
"strand": false,
"transcript": "XM_017010609.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8845,
"aa_ref": "Q",
"aa_start": 6305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27763,
"cdna_start": 19390,
"cds_end": null,
"cds_length": 26538,
"cds_start": 18914,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_011535641.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18914A>T",
"hgvs_p": "p.Gln6305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533943.1",
"strand": false,
"transcript": "XM_011535641.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8842,
"aa_ref": "Q",
"aa_start": 6302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27754,
"cdna_start": 19381,
"cds_end": null,
"cds_length": 26529,
"cds_start": 18905,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_006715408.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18905A>T",
"hgvs_p": "p.Gln6302Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715471.1",
"strand": false,
"transcript": "XM_006715408.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8841,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27751,
"cdna_start": 19378,
"cds_end": null,
"cds_length": 26526,
"cds_start": 18902,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_011535642.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18902A>T",
"hgvs_p": "p.Gln6301Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533944.1",
"strand": false,
"transcript": "XM_011535642.3",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 19372,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18896,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "XM_006715409.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18896A>T",
"hgvs_p": "p.Gln6299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715472.1",
"strand": false,
"transcript": "XM_006715409.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27666,
"cdna_start": 19293,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18896,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "XM_017010610.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18896A>T",
"hgvs_p": "p.Gln6299Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866099.1",
"strand": false,
"transcript": "XM_017010610.2",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27834,
"cdna_start": 19461,
"cds_end": null,
"cds_length": 26520,
"cds_start": 18896,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_047418501.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18896A>T",
"hgvs_p": "p.Gln6299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274457.1",
"strand": false,
"transcript": "XM_047418501.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 8837,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27387,
"cdna_start": 19014,
"cds_end": null,
"cds_length": 26514,
"cds_start": 18890,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "XM_017010611.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18890A>T",
"hgvs_p": "p.Gln6297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866100.1",
"strand": false,
"transcript": "XM_017010611.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_length": 27724,
"cdna_start": 19393,
"cds_end": null,
"cds_length": 26499,
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"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_006715410.3",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18917A>T",
"hgvs_p": "p.Gln6306Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006715473.1",
"strand": false,
"transcript": "XM_006715410.3",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"cdna_start": 19390,
"cds_end": null,
"cds_length": 26496,
"cds_start": 18914,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_047418502.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18914A>T",
"hgvs_p": "p.Gln6305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274458.1",
"strand": false,
"transcript": "XM_047418502.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_length": 27715,
"cdna_start": 19342,
"cds_end": null,
"cds_length": 26490,
"cds_start": 18866,
"consequences": [
"missense_variant"
],
"exon_count": 147,
"exon_rank": 100,
"exon_rank_end": null,
"feature": "XM_006715411.2",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18866A>T",
"hgvs_p": "p.Gln6289Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715474.1",
"strand": false,
"transcript": "XM_006715411.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8829,
"aa_ref": "Q",
"aa_start": 6289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27804,
"cdna_start": 19431,
"cds_end": null,
"cds_length": 26490,
"cds_start": 18866,
"consequences": [
"missense_variant"
],
"exon_count": 148,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_047418503.1",
"gene_hgnc_id": 17089,
"gene_symbol": "SYNE1",
"hgvs_c": "c.18866A>T",
"hgvs_p": "p.Gln6289Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274459.1",
"strand": false,
"transcript": "XM_047418503.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 8827,
"aa_ref": "Q",
"aa_start": 6301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 27709,
"cdna_start": 19378,
"cds_end": null,
"cds_length": 26484,
"cds_start": 18902,
"consequences": [
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