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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: 6-56476256-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56476256&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56476256,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000680361.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.21756delA",
"hgvs_p": "p.Ala7253fs",
"transcript": "NM_001374736.1",
"protein_id": "NP_001361665.1",
"transcript_support_level": null,
"aa_start": 7252,
"aa_end": null,
"aa_length": 7818,
"cds_start": 21756,
"cds_end": null,
"cds_length": 23457,
"cdna_start": 21999,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "ENST00000680361.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.21756delA",
"hgvs_p": "p.Ala7253fs",
"transcript": "ENST00000680361.1",
"protein_id": "ENSP00000505098.1",
"transcript_support_level": null,
"aa_start": 7252,
"aa_end": null,
"aa_length": 7818,
"cds_start": 21756,
"cds_end": null,
"cds_length": 23457,
"cdna_start": 21999,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "NM_001374736.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13887delA",
"hgvs_p": "p.Ala4630fs",
"transcript": "ENST00000244364.10",
"protein_id": "ENSP00000244364.6",
"transcript_support_level": 1,
"aa_start": 4629,
"aa_end": null,
"aa_length": 5171,
"cds_start": 13887,
"cds_end": null,
"cds_length": 15516,
"cdna_start": 14095,
"cdna_end": null,
"cdna_length": 16742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.21783delA",
"hgvs_p": "p.Ala7262fs",
"transcript": "NM_001374734.1",
"protein_id": "NP_001361663.1",
"transcript_support_level": null,
"aa_start": 7261,
"aa_end": null,
"aa_length": 7803,
"cds_start": 21783,
"cds_end": null,
"cds_length": 23412,
"cdna_start": 22026,
"cdna_end": null,
"cdna_length": 24664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.21756delA",
"hgvs_p": "p.Ala7253fs",
"transcript": "NM_001374722.1",
"protein_id": "NP_001361651.1",
"transcript_support_level": null,
"aa_start": 7252,
"aa_end": null,
"aa_length": 7794,
"cds_start": 21756,
"cds_end": null,
"cds_length": 23385,
"cdna_start": 21999,
"cdna_end": null,
"cdna_length": 24637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.20796delA",
"hgvs_p": "p.Ala6933fs",
"transcript": "NM_001374729.1",
"protein_id": "NP_001361658.1",
"transcript_support_level": null,
"aa_start": 6932,
"aa_end": null,
"aa_length": 7461,
"cds_start": 20796,
"cds_end": null,
"cds_length": 22386,
"cdna_start": 21298,
"cdna_end": null,
"cdna_length": 23897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 87,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.20796delA",
"hgvs_p": "p.Ala6933fs",
"transcript": "ENST00000361203.7",
"protein_id": "ENSP00000354508.3",
"transcript_support_level": 5,
"aa_start": 6932,
"aa_end": null,
"aa_length": 7461,
"cds_start": 20796,
"cds_end": null,
"cds_length": 22386,
"cdna_start": 20804,
"cdna_end": null,
"cdna_length": 22431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 86,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15399delA",
"hgvs_p": "p.Ala5134fs",
"transcript": "NM_001144769.5",
"protein_id": "NP_001138241.1",
"transcript_support_level": null,
"aa_start": 5133,
"aa_end": null,
"aa_length": 5675,
"cds_start": 15399,
"cds_end": null,
"cds_length": 17028,
"cdna_start": 15642,
"cdna_end": null,
"cdna_length": 18280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15072delA",
"hgvs_p": "p.Ala5025fs",
"transcript": "ENST00000449297.7",
"protein_id": "ENSP00000393082.3",
"transcript_support_level": 5,
"aa_start": 5024,
"aa_end": null,
"aa_length": 5560,
"cds_start": 15072,
"cds_end": null,
"cds_length": 16683,
"cdna_start": 15160,
"cdna_end": null,
"cdna_length": 17777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14985delA",
"hgvs_p": "p.Ala4996fs",
"transcript": "NM_001144770.2",
"protein_id": "NP_001138242.1",
"transcript_support_level": null,
"aa_start": 4995,
"aa_end": null,
"aa_length": 5537,
"cds_start": 14985,
"cds_end": null,
"cds_length": 16614,
"cdna_start": 15100,
"cdna_end": null,
"cdna_length": 17738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14985delA",
"hgvs_p": "p.Ala4996fs",
"transcript": "ENST00000312431.10",
"protein_id": "ENSP00000307959.7",
"transcript_support_level": 5,
"aa_start": 4995,
"aa_end": null,
"aa_length": 5537,
"cds_start": 14985,
"cds_end": null,
"cds_length": 16614,
"cdna_start": 15111,
"cdna_end": null,
"cdna_length": 17756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14865delA",
"hgvs_p": "p.Ala4956fs",
"transcript": "NM_183380.4",
"protein_id": "NP_899236.1",
"transcript_support_level": null,
"aa_start": 4955,
"aa_end": null,
"aa_length": 5497,
"cds_start": 14865,
"cds_end": null,
"cds_length": 16494,
"cdna_start": 15367,
"cdna_end": null,
"cdna_length": 18005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14865delA",
"hgvs_p": "p.Ala4956fs",
"transcript": "ENST00000421834.7",
"protein_id": "ENSP00000400883.3",
"transcript_support_level": 5,
"aa_start": 4955,
"aa_end": null,
"aa_length": 5497,
"cds_start": 14865,
"cds_end": null,
"cds_length": 16494,
"cdna_start": 15367,
"cdna_end": null,
"cdna_length": 18005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14865delA",
"hgvs_p": "p.Ala4956fs",
"transcript": "NM_001386100.1",
"protein_id": "NP_001373029.1",
"transcript_support_level": null,
"aa_start": 4955,
"aa_end": null,
"aa_length": 5491,
"cds_start": 14865,
"cds_end": null,
"cds_length": 16476,
"cdna_start": 15367,
"cdna_end": null,
"cdna_length": 17987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14658delA",
"hgvs_p": "p.Ala4887fs",
"transcript": "ENST00000520645.6",
"protein_id": "ENSP00000431030.2",
"transcript_support_level": 2,
"aa_start": 4886,
"aa_end": null,
"aa_length": 5422,
"cds_start": 14658,
"cds_end": null,
"cds_length": 16269,
"cdna_start": 14819,
"cdna_end": null,
"cdna_length": 17436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14538delA",
"hgvs_p": "p.Ala4847fs",
"transcript": "NM_001374730.1",
"protein_id": "NP_001361659.1",
"transcript_support_level": null,
"aa_start": 4846,
"aa_end": null,
"aa_length": 5375,
"cds_start": 14538,
"cds_end": null,
"cds_length": 16128,
"cdna_start": 15040,
"cdna_end": null,
"cdna_length": 17639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.14538delA",
"hgvs_p": "p.Ala4847fs",
"transcript": "ENST00000370788.6",
"protein_id": "ENSP00000359824.2",
"transcript_support_level": 5,
"aa_start": 4846,
"aa_end": null,
"aa_length": 5375,
"cds_start": 14538,
"cds_end": null,
"cds_length": 16128,
"cdna_start": 15058,
"cdna_end": null,
"cdna_length": 17657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13887delA",
"hgvs_p": "p.Ala4630fs",
"transcript": "NM_015548.5",
"protein_id": "NP_056363.2",
"transcript_support_level": null,
"aa_start": 4629,
"aa_end": null,
"aa_length": 5171,
"cds_start": 13887,
"cds_end": null,
"cds_length": 15516,
"cdna_start": 13988,
"cdna_end": null,
"cdna_length": 16626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.6441delA",
"hgvs_p": "p.Ala2148fs",
"transcript": "ENST00000340834.10",
"protein_id": "ENSP00000489032.2",
"transcript_support_level": 2,
"aa_start": 2147,
"aa_end": null,
"aa_length": 2676,
"cds_start": 6441,
"cds_end": null,
"cds_length": 8031,
"cdna_start": 7073,
"cdna_end": null,
"cdna_length": 9416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.2469delA",
"hgvs_p": "p.Ala824fs",
"transcript": "ENST00000651790.1",
"protein_id": "ENSP00000498389.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1346,
"cds_start": 2469,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.264delA",
"hgvs_p": "p.Ala89fs",
"transcript": "ENST00000651289.1",
"protein_id": "ENSP00000499198.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 624,
"cds_start": 264,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2823,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.768delA",
"hgvs_p": null,
"transcript": "ENST00000517840.1",
"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": 844,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.340delA",
"hgvs_p": null,
"transcript": "ENST00000651941.1",
"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,
"cdna_end": null,
"cdna_length": 8826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"dbsnp": "rs398122819",
"frequency_reference_population": 0.0000012417902,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85709e-7,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000680361.1",
"gene_symbol": "DST",
"hgnc_id": 1090,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.21756delA",
"hgvs_p": "p.Ala7253fs"
}
],
"clinvar_disease": " localized or generalized intermediate, with BP230 deficiency,Epidermolysis bullosa simplex 3,Hereditary sensory and autonomic neuropathy type 6,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy type 6|not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}