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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: 6-152122500-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152122500&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152122500,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26330C>G",
"hgvs_p": "p.Ser8777Cys",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 8777,
"aa_end": null,
"aa_length": 8797,
"cds_start": 26330,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 26895,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26330C>G",
"hgvs_p": "p.Ser8777Cys",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 8777,
"aa_end": null,
"aa_length": 8797,
"cds_start": 26330,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 26895,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.2864C>G",
"hgvs_p": "p.Ser955Cys",
"transcript": "NM_001347702.2",
"protein_id": "NP_001334631.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 975,
"cds_start": 2864,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": "ENST00000354674.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.2864C>G",
"hgvs_p": "p.Ser955Cys",
"transcript": "ENST00000354674.5",
"protein_id": "ENSP00000346701.4",
"transcript_support_level": 5,
"aa_start": 955,
"aa_end": null,
"aa_length": 975,
"cds_start": 2864,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": "NM_001347702.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26186C>G",
"hgvs_p": "p.Ser8729Cys",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 8729,
"aa_end": null,
"aa_length": 8749,
"cds_start": 26186,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 26662,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.3078C>G",
"hgvs_p": null,
"transcript": "ENST00000347037.9",
"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": 3798,
"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": 61,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.10022C>G",
"hgvs_p": null,
"transcript": "ENST00000367256.9",
"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": 10742,
"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": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.9914C>G",
"hgvs_p": null,
"transcript": "ENST00000409694.6",
"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": 10634,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.2944C>G",
"hgvs_p": null,
"transcript": "ENST00000460912.6",
"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": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.*141C>G",
"hgvs_p": null,
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1654,
"cds_start": -4,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.851-2766G>C",
"hgvs_p": null,
"transcript": "ENST00000427531.6",
"protein_id": "ENSP00000394721.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26186C>G",
"hgvs_p": "p.Ser8729Cys",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 8729,
"aa_end": null,
"aa_length": 8749,
"cds_start": 26186,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 26662,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.2795C>G",
"hgvs_p": "p.Ser932Cys",
"transcript": "ENST00000539504.5",
"protein_id": "ENSP00000441052.1",
"transcript_support_level": 5,
"aa_start": 932,
"aa_end": null,
"aa_length": 952,
"cds_start": 2795,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26477C>G",
"hgvs_p": "p.Ser8826Cys",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 8826,
"aa_end": null,
"aa_length": 8846,
"cds_start": 26477,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 26953,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 149,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26477C>G",
"hgvs_p": "p.Ser8826Cys",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 8826,
"aa_end": null,
"aa_length": 8846,
"cds_start": 26477,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 27042,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26477C>G",
"hgvs_p": "p.Ser8826Cys",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 8826,
"aa_end": null,
"aa_length": 8846,
"cds_start": 26477,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 26874,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26474C>G",
"hgvs_p": "p.Ser8825Cys",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 8825,
"aa_end": null,
"aa_length": 8845,
"cds_start": 26474,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 26950,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26465C>G",
"hgvs_p": "p.Ser8822Cys",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 8822,
"aa_end": null,
"aa_length": 8842,
"cds_start": 26465,
"cds_end": null,
"cds_length": 26529,
"cdna_start": 26941,
"cdna_end": null,
"cdna_length": 27754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26462C>G",
"hgvs_p": "p.Ser8821Cys",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 8821,
"aa_end": null,
"aa_length": 8841,
"cds_start": 26462,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 26938,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26456C>G",
"hgvs_p": "p.Ser8819Cys",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 8819,
"aa_end": null,
"aa_length": 8839,
"cds_start": 26456,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 26932,
"cdna_end": null,
"cdna_length": 27745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26456C>G",
"hgvs_p": "p.Ser8819Cys",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 8819,
"aa_end": null,
"aa_length": 8839,
"cds_start": 26456,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 26853,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.26456C>G",
"hgvs_p": "p.Ser8819Cys",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 8819,
"aa_end": null,
"aa_length": 8839,
"cds_start": 26456,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 27021,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48459312319755554,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.764,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000367255.10",
"gene_symbol": "SYNE1",
"hgnc_id": 17089,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.26330C>G",
"hgvs_p": "p.Ser8777Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001328100.2",
"gene_symbol": "ESR1",
"hgnc_id": 3467,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.851-2766G>C",
"hgvs_p": null
}
],
"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,Rare genetic intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type|not provided|Rare genetic intellectual disability",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}