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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: 6-75914186-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75914186&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75914186,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001368865.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Lys1188Arg",
"transcript": "NM_004999.4",
"protein_id": "NP_004990.3",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369977.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004999.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Lys1188Arg",
"transcript": "ENST00000369977.8",
"protein_id": "ENSP00000358994.3",
"transcript_support_level": 1,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004999.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369977.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Lys1165Arg",
"transcript": "ENST00000615563.4",
"protein_id": "ENSP00000478013.1",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615563.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3590A>G",
"hgvs_p": "p.Lys1197Arg",
"transcript": "NM_001368865.1",
"protein_id": "NP_001355794.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368865.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3590A>G",
"hgvs_p": "p.Lys1197Arg",
"transcript": "ENST00000664640.1",
"protein_id": "ENSP00000499278.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664640.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Lys1188Arg",
"transcript": "NM_001368866.1",
"protein_id": "NP_001355795.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368866.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Lys1188Arg",
"transcript": "ENST00000672093.1",
"protein_id": "ENSP00000500710.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672093.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3563A>G",
"hgvs_p": "p.Lys1188Arg",
"transcript": "ENST00000947981.1",
"protein_id": "ENSP00000618040.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3563,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947981.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3536A>G",
"hgvs_p": "p.Lys1179Arg",
"transcript": "ENST00000927896.1",
"protein_id": "ENSP00000597955.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3536,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927896.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3533A>G",
"hgvs_p": "p.Lys1178Arg",
"transcript": "ENST00000927895.1",
"protein_id": "ENSP00000597954.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927895.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3524A>G",
"hgvs_p": "p.Lys1175Arg",
"transcript": "NM_001368137.1",
"protein_id": "NP_001355066.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3524,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368137.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3524A>G",
"hgvs_p": "p.Lys1175Arg",
"transcript": "ENST00000947980.1",
"protein_id": "ENSP00000618039.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3524,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947980.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3506A>G",
"hgvs_p": "p.Lys1169Arg",
"transcript": "ENST00000927894.1",
"protein_id": "ENSP00000597953.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927894.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Lys1166Arg",
"transcript": "ENST00000927893.1",
"protein_id": "ENSP00000597952.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927893.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Lys1165Arg",
"transcript": "NM_001300899.2",
"protein_id": "NP_001287828.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300899.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Lys1165Arg",
"transcript": "ENST00000369985.9",
"protein_id": "ENSP00000359002.3",
"transcript_support_level": 5,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369985.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3479A>G",
"hgvs_p": "p.Lys1160Arg",
"transcript": "NM_001368138.1",
"protein_id": "NP_001355067.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368138.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3467A>G",
"hgvs_p": "p.Lys1156Arg",
"transcript": "NM_001368136.1",
"protein_id": "NP_001355065.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368136.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3467A>G",
"hgvs_p": "p.Lys1156Arg",
"transcript": "ENST00000369975.6",
"protein_id": "ENSP00000358992.1",
"transcript_support_level": 5,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369975.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3467A>G",
"hgvs_p": "p.Lys1156Arg",
"transcript": "ENST00000927897.1",
"protein_id": "ENSP00000597956.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3467,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927897.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3128A>G",
"hgvs_p": "p.Lys1043Arg",
"transcript": "ENST00000947982.1",
"protein_id": "ENSP00000618041.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947982.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3590A>G",
"hgvs_p": "p.Lys1197Arg",
"transcript": "XM_024446447.2",
"protein_id": "XP_024302215.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3590,
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],
"gene_symbol": "MYO6",
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"dbsnp": "rs61734891",
"frequency_reference_population": 0.00048073588,
"hom_count_reference_population": 3,
"allele_count_reference_population": 776,
"gnomad_exomes_af": 0.000274986,
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"gnomad_exomes_ac": 402,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008768826723098755,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0812,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.073,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001368865.1",
"gene_symbol": "MYO6",
"hgnc_id": 7605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3590A>G",
"hgvs_p": "p.Lys1197Arg"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 22,Autosomal recessive nonsyndromic hearing loss 37,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:5",
"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 37|Autosomal dominant nonsyndromic hearing loss 22",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}