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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: 6-43445815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43445815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43445815,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372530.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "NM_001198934.2",
"protein_id": "NP_001185863.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "ENST00000372530.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "ENST00000372530.9",
"protein_id": "ENSP00000361608.4",
"transcript_support_level": 2,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": "NM_001198934.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3163C>T",
"hgvs_p": "p.Arg1055Cys",
"transcript": "ENST00000244533.7",
"protein_id": "ENSP00000244533.3",
"transcript_support_level": 1,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3163,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3163C>T",
"hgvs_p": "p.Arg1055Cys",
"transcript": "NM_033450.3",
"protein_id": "NP_258261.2",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3163,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"transcript": "NM_001350518.2",
"protein_id": "NP_001337447.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1048,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_047419494.1",
"protein_id": "XP_047275450.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_011514974.4",
"protein_id": "XP_011513276.3",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419495.1",
"protein_id": "XP_047275451.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419498.1",
"protein_id": "XP_047275454.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1396,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"transcript": "XM_047419499.1",
"protein_id": "XP_047275455.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2743,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419500.1",
"protein_id": "XP_047275456.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "XM_047419501.1",
"protein_id": "XP_047275457.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3247,
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"cds_length": 3714,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Cys",
"transcript": "XM_047419502.1",
"protein_id": "XP_047275458.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1048,
"cds_start": 1915,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "XM_011514985.4",
"protein_id": "XP_011513287.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 841,
"cds_start": 1294,
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"cds_length": 2526,
"cdna_start": 1663,
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"cdna_length": 3231,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "XM_011514986.4",
"protein_id": "XP_011513288.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 841,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"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": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.2975C>T",
"hgvs_p": null,
"transcript": "ENST00000463024.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4542,
"mane_select": null,
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"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": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.1908C>T",
"hgvs_p": null,
"transcript": "NR_146762.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3476,
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"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.3363C>T",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*3918C>T",
"hgvs_p": null,
"transcript": "ENST00000372515.9",
"protein_id": "ENSP00000361593.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.215+501C>T",
"hgvs_p": null,
"transcript": "ENST00000372512.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"dbsnp": "rs41281804",
"frequency_reference_population": 0.000052661253,
"hom_count_reference_population": 1,
"allele_count_reference_population": 85,
"gnomad_exomes_af": 0.0000554118,
"gnomad_genomes_af": 0.0000262626,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21399745345115662,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.462,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.276,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372530.9",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}