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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: 16-19071990-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19071990&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19071990,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_016138.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "NM_016138.5",
"protein_id": "NP_057222.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321998.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016138.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000321998.10",
"protein_id": "ENSP00000322316.5",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016138.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321998.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "ENST00000544894.6",
"protein_id": "ENSP00000442923.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544894.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000568985.5",
"protein_id": "ENSP00000456734.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568985.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "NM_001370489.1",
"protein_id": "NP_001357418.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 203,
"cds_start": 94,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370489.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "NM_001370490.1",
"protein_id": "NP_001357419.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 194,
"cds_start": 136,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370490.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.67C>A",
"hgvs_p": "p.Arg23Arg",
"transcript": "ENST00000569127.1",
"protein_id": "ENSP00000455122.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 194,
"cds_start": 67,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569127.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "NM_001370491.1",
"protein_id": "NP_001357420.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370491.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "NM_001190983.2",
"protein_id": "NP_001177912.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190983.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "NM_001370492.1",
"protein_id": "NP_001357421.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370492.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "NM_001370493.1",
"protein_id": "NP_001357422.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370493.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "NM_001370494.1",
"protein_id": "NP_001357423.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 179,
"cds_start": 22,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370494.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "NM_001370495.1",
"protein_id": "NP_001357424.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 156,
"cds_start": 22,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370495.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000937633.1",
"protein_id": "ENSP00000607692.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 132,
"cds_start": 136,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937633.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "ENST00000561858.5",
"protein_id": "ENSP00000457256.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 129,
"cds_start": 22,
"cds_end": null,
"cds_length": 391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561858.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.22C>A",
"hgvs_p": "p.Arg8Arg",
"transcript": "ENST00000566110.5",
"protein_id": "ENSP00000456943.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 102,
"cds_start": 22,
"cds_end": null,
"cds_length": 310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566110.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "XM_047433494.1",
"protein_id": "XP_047289450.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433494.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "XM_047433495.1",
"protein_id": "XP_047289451.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433495.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "XM_047433496.1",
"protein_id": "XP_047289452.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 136,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433496.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "XM_047433497.1",
"protein_id": "XP_047289453.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 203,
"cds_start": 94,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433497.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Arg32Arg",
"transcript": "XM_047433498.1",
"protein_id": "XP_047289454.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 203,
"cds_start": 94,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.74-3731C>A",
"hgvs_p": null,
"transcript": "ENST00000907103.1",
"protein_id": "ENSP00000577162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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}
],
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}