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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: 20-417561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=417561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 417561,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356286.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "NM_031229.4",
"protein_id": "NP_112506.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 510,
"cds_start": 203,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "ENST00000356286.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000356286.10",
"protein_id": "ENSP00000348632.6",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 510,
"cds_start": 203,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "NM_031229.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Ile",
"transcript": "ENST00000353660.7",
"protein_id": "ENSP00000254960.5",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 468,
"cds_start": 77,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2511,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.77C>T",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"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": 2208,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"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": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "NM_001410770.1",
"protein_id": "NP_001397699.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 527,
"cds_start": 254,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "ENST00000697805.1",
"protein_id": "ENSP00000513446.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 527,
"cds_start": 254,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Ile",
"transcript": "NM_006462.6",
"protein_id": "NP_006453.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 468,
"cds_start": 77,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "ENST00000414880.1",
"protein_id": "ENSP00000393841.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 253,
"cds_start": 299,
"cds_end": null,
"cds_length": 763,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "ENST00000411647.5",
"protein_id": "ENSP00000415080.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 116,
"cds_start": 203,
"cds_end": null,
"cds_length": 352,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Thr67Ile",
"transcript": "ENST00000441733.5",
"protein_id": "ENSP00000387799.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 115,
"cds_start": 200,
"cds_end": null,
"cds_length": 350,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "XM_011529137.3",
"protein_id": "XP_011527439.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 568,
"cds_start": 377,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Ile",
"transcript": "XM_011529138.2",
"protein_id": "XP_011527440.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 551,
"cds_start": 326,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "XM_011529139.4",
"protein_id": "XP_011527441.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 502,
"cds_start": 377,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "XM_011529140.3",
"protein_id": "XP_011527442.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 362,
"cds_start": 377,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "XM_047439833.1",
"protein_id": "XP_047295789.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 330,
"cds_start": 377,
"cds_end": null,
"cds_length": 993,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile",
"transcript": "XM_047439834.1",
"protein_id": "XP_047295790.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 304,
"cds_start": 203,
"cds_end": null,
"cds_length": 915,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "XM_047439835.1",
"protein_id": "XP_047295791.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 289,
"cds_start": 254,
"cds_end": null,
"cds_length": 870,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1378,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000415942.5",
"protein_id": "ENSP00000405288.1",
"transcript_support_level": 5,
"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": 2613,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000697804.1",
"protein_id": "ENSP00000513444.1",
"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": 2671,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.662C>T",
"hgvs_p": null,
"transcript": "NR_136659.2",
"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": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"transcript": "NM_001323956.2",
"protein_id": "NP_001310885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"transcript": "NM_001323958.2",
"protein_id": "NP_001310887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"dbsnp": "rs753472058",
"frequency_reference_population": 0.000018472956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.000018473,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17093786597251892,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.1939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.192,
"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": 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": "ENST00000356286.10",
"gene_symbol": "RBCK1",
"hgnc_id": 15864,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Thr68Ile"
}
],
"clinvar_disease": "Polyglucosan body myopathy type 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Polyglucosan body myopathy type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}