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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: 11-65582285-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65582285&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65582285,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099409.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1613T>C",
"hgvs_p": "p.Val538Ala",
"transcript": "NM_001099409.3",
"protein_id": "NP_001092879.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1613,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": "ENST00000309295.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099409.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1613T>C",
"hgvs_p": "p.Val538Ala",
"transcript": "ENST00000309295.9",
"protein_id": "ENSP00000312671.4",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1613,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": "NM_001099409.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309295.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Val550Ala",
"transcript": "ENST00000968317.1",
"protein_id": "ENSP00000638376.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1535,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968317.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Val550Ala",
"transcript": "ENST00000968331.1",
"protein_id": "ENSP00000638390.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1493,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4482,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968331.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Val550Ala",
"transcript": "ENST00000968327.1",
"protein_id": "ENSP00000638386.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1649,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968327.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1613T>C",
"hgvs_p": "p.Val538Ala",
"transcript": "ENST00000968330.1",
"protein_id": "ENSP00000638389.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968330.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Val550Ala",
"transcript": "XM_006718486.4",
"protein_id": "XP_006718549.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1535,
"cds_start": 1649,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718486.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1550T>C",
"hgvs_p": "p.Val517Ala",
"transcript": "XM_017017467.2",
"protein_id": "XP_016872956.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1550,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017467.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1550T>C",
"hgvs_p": "p.Val517Ala",
"transcript": "XM_017017468.2",
"protein_id": "XP_016872957.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1550,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017468.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Val478Ala",
"transcript": "XM_047426704.1",
"protein_id": "XP_047282660.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1433,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426704.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Val550Ala",
"transcript": "XM_006718487.5",
"protein_id": "XP_006718550.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1649,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718487.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1611+2T>C",
"hgvs_p": null,
"transcript": "ENST00000968332.1",
"protein_id": "ENSP00000638391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1029,
"cds_start": null,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968332.1"
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1329+320T>C",
"hgvs_p": null,
"transcript": "ENST00000968321.1",
"protein_id": "ENSP00000638380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": null,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968321.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1293+320T>C",
"hgvs_p": null,
"transcript": "ENST00000905137.1",
"protein_id": "ENSP00000575196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": null,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905137.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1221+320T>C",
"hgvs_p": null,
"transcript": "ENST00000968334.1",
"protein_id": "ENSP00000638393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968334.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.1293+320T>C",
"hgvs_p": null,
"transcript": "ENST00000968333.1",
"protein_id": "ENSP00000638392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": null,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
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"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968333.1"
},
{
"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": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.855+959T>C",
"hgvs_p": null,
"transcript": "ENST00000968319.1",
"protein_id": "ENSP00000638378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968319.1"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.819+959T>C",
"hgvs_p": null,
"transcript": "ENST00000968320.1",
"protein_id": "ENSP00000638379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968320.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.780+1034T>C",
"hgvs_p": null,
"transcript": "ENST00000968322.1",
"protein_id": "ENSP00000638381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": null,
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"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968322.1"
},
{
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.744+1034T>C",
"hgvs_p": null,
"transcript": "ENST00000968323.1",
"protein_id": "ENSP00000638382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": null,
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"cds_length": 2397,
"cdna_start": null,
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"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968323.1"
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.855+959T>C",
"hgvs_p": null,
"transcript": "ENST00000968318.1",
"protein_id": "ENSP00000638377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": null,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968318.1"
},
{
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EHBP1L1",
"gene_hgnc_id": 30682,
"hgvs_c": "c.819+959T>C",
"hgvs_p": null,
"transcript": "ENST00000968325.1",
"protein_id": "ENSP00000638384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
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}