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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: 6-85543737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85543737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 85543737,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000314673.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "NM_153816.6",
"protein_id": "NP_722523.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 946,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": "ENST00000314673.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000314673.8",
"protein_id": "ENSP00000313121.3",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 946,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": "NM_153816.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000369627.6",
"protein_id": "ENSP00000358641.2",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 937,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "ENST00000346348.7",
"protein_id": "ENSP00000257769.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 893,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.*1042C>T",
"hgvs_p": null,
"transcript": "ENST00000682083.1",
"protein_id": "ENSP00000506859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.*1042C>T",
"hgvs_p": null,
"transcript": "ENST00000682083.1",
"protein_id": "ENSP00000506859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350548.2",
"protein_id": "NP_001337477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350549.2",
"protein_id": "NP_001337478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350550.2",
"protein_id": "NP_001337479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350551.2",
"protein_id": "NP_001337480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350552.2",
"protein_id": "NP_001337481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.-24C>T",
"hgvs_p": null,
"transcript": "NM_001350553.2",
"protein_id": "NP_001337482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000684717.1",
"protein_id": "ENSP00000507024.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 985,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "NM_001350532.2",
"protein_id": "NP_001337461.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 967,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000684570.1",
"protein_id": "ENSP00000508127.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 967,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "NM_001350533.2",
"protein_id": "NP_001337462.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 945,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "ENST00000682497.1",
"protein_id": "ENSP00000507869.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 945,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000683479.1",
"protein_id": "ENSP00000507368.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 945,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000508658.6",
"protein_id": "ENSP00000422814.2",
"transcript_support_level": 3,
"aa_start": 378,
"aa_end": null,
"aa_length": 939,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "ENST00000683541.1",
"protein_id": "ENSP00000507116.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 938,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "NM_001297614.3",
"protein_id": "NP_001284543.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 937,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "NM_001350534.2",
"protein_id": "NP_001337463.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 936,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.1132C>T",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
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"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}