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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: 10-11165656-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11165656&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 11165656,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001326342.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001326342.2",
"protein_id": "NP_001313271.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 521,
"cds_start": 245,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": "ENST00000633077.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "ENST00000633077.2",
"protein_id": "ENSP00000488690.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 521,
"cds_start": 245,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": "NM_001326342.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "ENST00000632065.1",
"protein_id": "ENSP00000488422.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "ENST00000542579.5",
"protein_id": "ENSP00000443926.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 521,
"cds_start": 245,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 7982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "ENST00000416382.6",
"protein_id": "ENSP00000406451.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 508,
"cds_start": 224,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 6894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000417956.6",
"protein_id": "ENSP00000404834.3",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 490,
"cds_start": 152,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 8044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000608830.5",
"protein_id": "ENSP00000476999.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 488,
"cds_start": 152,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "NM_001326325.2",
"protein_id": "NP_001313254.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 539,
"cds_start": 317,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 7933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001326343.2",
"protein_id": "NP_001313272.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 539,
"cds_start": 245,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001326340.2",
"protein_id": "NP_001313269.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 9442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "NM_001326336.2",
"protein_id": "NP_001313265.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 532,
"cds_start": 224,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Gln",
"transcript": "NM_001326327.2",
"protein_id": "NP_001313256.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 526,
"cds_start": 260,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 300,
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"cdna_length": 7885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Gln",
"transcript": "ENST00000637215.1",
"protein_id": "ENSP00000490185.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 526,
"cds_start": 260,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 628,
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"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_006561.4",
"protein_id": "NP_006552.3",
"transcript_support_level": null,
"aa_start": 82,
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"cds_start": 245,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Gln",
"transcript": "NM_001326326.2",
"protein_id": "NP_001313255.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 520,
"cds_start": 260,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87Gln",
"transcript": "ENST00000636488.1",
"protein_id": "ENSP00000489955.1",
"transcript_support_level": 5,
"aa_start": 87,
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"cds_start": 260,
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"cdna_start": 401,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001394518.1",
"protein_id": "NP_001381447.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 519,
"cds_start": 245,
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"cdna_start": 463,
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"cdna_length": 8042,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001394519.1",
"protein_id": "NP_001381448.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 519,
"cds_start": 245,
"cds_end": null,
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"cdna_start": 463,
"cdna_end": null,
"cdna_length": 9400,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001326341.2",
"protein_id": "NP_001313270.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
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"cds_start": 245,
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"feature": null
},
{
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"aa_alt": "Q",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"transcript": "NM_001394513.1",
"protein_id": "NP_001381442.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
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"cds_start": 245,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "NM_001326331.2",
"protein_id": "NP_001313260.1",
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"aa_start": 75,
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"cds_start": 224,
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"cdna_start": 300,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "NM_001394502.1",
"protein_id": "NP_001381431.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 514,
"cds_start": 224,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 9243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "ENST00000631816.1",
"protein_id": "ENSP00000488268.1",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}