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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: 11-47488906-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47488906&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47488906,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000687097.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376376.1",
"protein_id": "NP_001363305.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": "ENST00000687097.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000687097.1",
"protein_id": "ENSP00000508525.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": "NM_001376376.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000532048.5",
"protein_id": "ENSP00000435926.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 512,
"cds_start": 190,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Glu37Lys",
"transcript": "ENST00000358597.7",
"protein_id": "ENSP00000351409.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 486,
"cds_start": 109,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Glu37Lys",
"transcript": "ENST00000361904.7",
"protein_id": "ENSP00000354639.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 483,
"cds_start": 109,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Glu37Lys",
"transcript": "ENST00000395292.6",
"protein_id": "ENSP00000378706.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 483,
"cds_start": 109,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Glu37Lys",
"transcript": "ENST00000310513.10",
"protein_id": "ENSP00000308386.5",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 482,
"cds_start": 109,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001330272.2",
"protein_id": "NP_001317201.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 8084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376369.1",
"protein_id": "NP_001363298.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 8172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376370.1",
"protein_id": "NP_001363299.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 8060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376371.1",
"protein_id": "NP_001363300.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376372.1",
"protein_id": "NP_001363301.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 8084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376373.1",
"protein_id": "NP_001363302.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376374.1",
"protein_id": "NP_001363303.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
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"cds_start": 190,
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"cdna_start": 412,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376375.1",
"protein_id": "NP_001363304.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 514,
"cds_start": 190,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000531165.5",
"protein_id": "ENSP00000436864.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
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"cds_start": 190,
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"cdna_start": 469,
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"cdna_length": 3650,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376377.1",
"protein_id": "NP_001363306.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 8057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376378.1",
"protein_id": "NP_001363307.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 595,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376379.1",
"protein_id": "NP_001363308.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
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"cdna_start": 412,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376380.1",
"protein_id": "NP_001363309.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
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"cdna_start": 412,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376381.1",
"protein_id": "NP_001363310.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376382.1",
"protein_id": "NP_001363311.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 513,
"cds_start": 190,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 8081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF1",
"gene_hgnc_id": 2549,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_001376383.1",
"protein_id": "NP_001363312.1",
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"phenotype_combined": "not specified",
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}
],
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}