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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: 6-75817582-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75817582&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75817582,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_004999.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_004999.4",
"protein_id": "NP_004990.3",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1285,
"cds_start": 37,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "ENST00000369977.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000369977.8",
"protein_id": "ENSP00000358994.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1285,
"cds_start": 37,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "NM_004999.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000615563.4",
"protein_id": "ENSP00000478013.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1262,
"cds_start": 37,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368865.1",
"protein_id": "NP_001355794.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1294,
"cds_start": 37,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000664640.1",
"protein_id": "ENSP00000499278.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1294,
"cds_start": 37,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368866.1",
"protein_id": "NP_001355795.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1285,
"cds_start": 37,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000672093.1",
"protein_id": "ENSP00000500710.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1285,
"cds_start": 37,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368137.1",
"protein_id": "NP_001355066.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1272,
"cds_start": 37,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001300899.2",
"protein_id": "NP_001287828.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1262,
"cds_start": 37,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000369985.9",
"protein_id": "ENSP00000359002.3",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 1262,
"cds_start": 37,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368138.1",
"protein_id": "NP_001355067.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1257,
"cds_start": 37,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368136.1",
"protein_id": "NP_001355065.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1253,
"cds_start": 37,
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"cds_length": 3762,
"cdna_start": 269,
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"cdna_length": 8519,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000369975.6",
"protein_id": "ENSP00000358992.1",
"transcript_support_level": 5,
"aa_start": 13,
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"aa_length": 1253,
"cds_start": 37,
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"cds_length": 3762,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000627432.3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000662603.1",
"protein_id": "ENSP00000499324.1",
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"aa_start": 13,
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"aa_length": 925,
"cds_start": 37,
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"cdna_start": 380,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000664209.1",
"protein_id": "ENSP00000499768.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "ENST00000653423.1",
"protein_id": "ENSP00000499696.1",
"transcript_support_level": null,
"aa_start": 13,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368139.1",
"protein_id": "NP_001355068.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 37,
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"cdna_start": 387,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "NM_001368140.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "XM_024446447.2",
"protein_id": "XP_024302215.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "XM_005248721.5",
"protein_id": "XP_005248778.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "XM_005248722.5",
"protein_id": "XP_005248779.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1276,
"cds_start": 37,
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"cdna_start": 269,
"cdna_end": null,
"cdna_length": 8588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.36dupT",
"hgvs_p": "p.Thr13fs",
"transcript": "XM_005248724.5",
"protein_id": "XP_005248781.1",
"transcript_support_level": null,
"aa_start": 13,
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"clinvar_review_status": "no assertion criteria provided",
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"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 37",
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}
],
"message": null
}