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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: 9-83975466-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83975466&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83975466,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000376263.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "NM_031263.4",
"protein_id": "NP_112553.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": "ENST00000376263.8",
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000376263.8",
"protein_id": "ENSP00000365439.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": "NM_031263.4",
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000376281.8",
"protein_id": "ENSP00000365458.4",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2928,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000360384.9",
"protein_id": "ENSP00000353552.5",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2038,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "NM_002140.5",
"protein_id": "NP_002131.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2939,
"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": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704005.1",
"protein_id": "ENSP00000515618.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2826,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704011.1",
"protein_id": "ENSP00000515624.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2591,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704057.1",
"protein_id": "ENSP00000515660.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1955,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704059.1",
"protein_id": "ENSP00000515662.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 464,
"cds_start": 253,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1845,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "NM_001318188.2",
"protein_id": "NP_001305117.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2829,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "NM_031262.4",
"protein_id": "NP_112552.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2879,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704006.1",
"protein_id": "ENSP00000515619.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2721,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704051.1",
"protein_id": "ENSP00000515654.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 545,
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"cdna_length": 2758,
"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,
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"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704052.1",
"protein_id": "ENSP00000515655.1",
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"aa_start": 85,
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"cdna_start": 374,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704053.1",
"protein_id": "ENSP00000515656.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 463,
"cds_start": 253,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 2490,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704058.1",
"protein_id": "ENSP00000515661.1",
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704012.1",
"protein_id": "ENSP00000515625.1",
"transcript_support_level": null,
"aa_start": 85,
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"aa_length": 459,
"cds_start": 253,
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"cdna_start": 488,
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"cdna_length": 2581,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704010.1",
"protein_id": "ENSP00000515623.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 458,
"cds_start": 253,
"cds_end": null,
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"cdna_start": 473,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704055.1",
"protein_id": "ENSP00000515658.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704014.1",
"protein_id": "ENSP00000515627.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
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"cds_start": 253,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000704015.1",
"protein_id": "ENSP00000515628.1",
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"aa_start": 85,
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"cds_start": 253,
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"cdna_start": 508,
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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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "NM_001318187.2",
"protein_id": "NP_001305116.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 440,
"cds_start": 253,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2817,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPK",
"gene_hgnc_id": 5044,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Glu85Lys",
"transcript": "ENST00000457156.6",
"protein_id": "ENSP00000409456.2",
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{
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{
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:4 US:2",
"phenotype_combined": "not provided|Inborn genetic diseases|Au-Kline syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}