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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: 6-85507303-AAAT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85507303&ref=AAAT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 85507303,
"ref": "AAAT",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001350532.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-17_2746-15delATT",
"hgvs_p": null,
"transcript": "NM_153816.6",
"protein_id": "NP_722523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314673.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153816.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-17_2746-15delATT",
"hgvs_p": null,
"transcript": "ENST00000314673.8",
"protein_id": "ENSP00000313121.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153816.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314673.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2719-17_2719-15delATT",
"hgvs_p": null,
"transcript": "ENST00000369627.6",
"protein_id": "ENSP00000358641.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369627.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2587-17_2587-15delATT",
"hgvs_p": null,
"transcript": "ENST00000346348.7",
"protein_id": "ENSP00000257769.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346348.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.*2656-17_*2656-15delATT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2863-17_2863-15delATT",
"hgvs_p": null,
"transcript": "ENST00000684717.1",
"protein_id": "ENSP00000507024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": null,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2809-17_2809-15delATT",
"hgvs_p": null,
"transcript": "NM_001350532.2",
"protein_id": "NP_001337461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": null,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350532.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2809-17_2809-15delATT",
"hgvs_p": null,
"transcript": "ENST00000684570.1",
"protein_id": "ENSP00000508127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": null,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2782-17_2782-15delATT",
"hgvs_p": null,
"transcript": "ENST00000903336.1",
"protein_id": "ENSP00000573395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2743-17_2743-15delATT",
"hgvs_p": null,
"transcript": "NM_001350533.2",
"protein_id": "NP_001337462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350533.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2743-17_2743-15delATT",
"hgvs_p": null,
"transcript": "ENST00000682497.1",
"protein_id": "ENSP00000507869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682497.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-17_2746-15delATT",
"hgvs_p": null,
"transcript": "ENST00000683479.1",
"protein_id": "ENSP00000507368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2740-17_2740-15delATT",
"hgvs_p": null,
"transcript": "ENST00000939210.1",
"protein_id": "ENSP00000609269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 944,
"cds_start": null,
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"cds_length": 2835,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939210.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-17_2746-15delATT",
"hgvs_p": null,
"transcript": "ENST00000903330.1",
"protein_id": "ENSP00000573389.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903330.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2734-17_2734-15delATT",
"hgvs_p": null,
"transcript": "ENST00000903343.1",
"protein_id": "ENSP00000573402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903343.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-17_2746-15delATT",
"hgvs_p": null,
"transcript": "ENST00000508658.6",
"protein_id": "ENSP00000422814.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
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"cds_length": 2820,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508658.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2743-17_2743-15delATT",
"hgvs_p": null,
"transcript": "ENST00000683541.1",
"protein_id": "ENSP00000507116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
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"cds_length": 2817,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683541.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2719-17_2719-15delATT",
"hgvs_p": null,
"transcript": "NM_001297614.3",
"protein_id": "NP_001284543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297614.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2716-17_2716-15delATT",
"hgvs_p": null,
"transcript": "NM_001350534.2",
"protein_id": "NP_001337463.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350534.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2716-17_2716-15delATT",
"hgvs_p": null,
"transcript": "ENST00000903328.1",
"protein_id": "ENSP00000573387.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903328.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2746-50_2746-48delATT",
"hgvs_p": null,
"transcript": "ENST00000515216.6",
"protein_id": "ENSP00000425630.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515216.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2713-17_2713-15delATT",
"hgvs_p": null,
"transcript": "ENST00000903346.1",
"protein_id": "ENSP00000573405.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903346.1"
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],
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.504,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
"score": 0,
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"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350532.2",
"gene_symbol": "SNX14",
"hgnc_id": 14977,
"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000682083.1",
"gene_symbol": "ENSG00000271793",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2656-17_*2656-15delATT",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}