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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: 6-85508042-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85508042&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 85508042,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000314673.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs",
"transcript": "NM_153816.6",
"protein_id": "NP_722523.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 946,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": "ENST00000314673.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs",
"transcript": "ENST00000314673.8",
"protein_id": "ENSP00000313121.3",
"transcript_support_level": 1,
"aa_start": 890,
"aa_end": null,
"aa_length": 946,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": "NM_153816.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2643delT",
"hgvs_p": "p.Cys881fs",
"transcript": "ENST00000369627.6",
"protein_id": "ENSP00000358641.2",
"transcript_support_level": 1,
"aa_start": 881,
"aa_end": null,
"aa_length": 937,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2511delT",
"hgvs_p": "p.Cys837fs",
"transcript": "ENST00000346348.7",
"protein_id": "ENSP00000257769.3",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 893,
"cds_start": 2511,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2706,
"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": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.*2580delT",
"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": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.*2580delT",
"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": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2787delT",
"hgvs_p": "p.Cys929fs",
"transcript": "ENST00000684717.1",
"protein_id": "ENSP00000507024.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 985,
"cds_start": 2787,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2733delT",
"hgvs_p": "p.Cys911fs",
"transcript": "NM_001350532.2",
"protein_id": "NP_001337461.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 967,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2733delT",
"hgvs_p": "p.Cys911fs",
"transcript": "ENST00000684570.1",
"protein_id": "ENSP00000508127.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 967,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2667delT",
"hgvs_p": "p.Cys889fs",
"transcript": "NM_001350533.2",
"protein_id": "NP_001337462.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 945,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2667delT",
"hgvs_p": "p.Cys889fs",
"transcript": "ENST00000682497.1",
"protein_id": "ENSP00000507869.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 945,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs",
"transcript": "ENST00000683479.1",
"protein_id": "ENSP00000507368.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 945,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs",
"transcript": "ENST00000508658.6",
"protein_id": "ENSP00000422814.2",
"transcript_support_level": 3,
"aa_start": 890,
"aa_end": null,
"aa_length": 939,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2667delT",
"hgvs_p": "p.Cys889fs",
"transcript": "ENST00000683541.1",
"protein_id": "ENSP00000507116.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 938,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2643delT",
"hgvs_p": "p.Cys881fs",
"transcript": "NM_001297614.3",
"protein_id": "NP_001284543.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 937,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2640delT",
"hgvs_p": "p.Cys880fs",
"transcript": "NM_001350534.2",
"protein_id": "NP_001337463.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 936,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs",
"transcript": "ENST00000515216.6",
"protein_id": "ENSP00000425630.2",
"transcript_support_level": 5,
"aa_start": 890,
"aa_end": null,
"aa_length": 935,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2667delT",
"hgvs_p": "p.Cys889fs",
"transcript": "NM_001350535.2",
"protein_id": "NP_001337464.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 934,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2667delT",
"hgvs_p": "p.Cys889fs",
"transcript": "ENST00000684118.1",
"protein_id": "ENSP00000507950.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 934,
"cds_start": 2667,
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"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2589delT",
"hgvs_p": "p.Cys863fs",
"transcript": "ENST00000683754.1",
"protein_id": "ENSP00000507707.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 919,
"cds_start": 2589,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2586delT",
"hgvs_p": "p.Cys862fs",
"transcript": "ENST00000681981.1",
"protein_id": "ENSP00000507672.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2586,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
"hgvs_c": "c.2538delT",
"hgvs_p": "p.Cys846fs",
"transcript": "NM_001350536.2",
"protein_id": "NP_001337465.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 902,
"cds_start": 2538,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX14",
"gene_hgnc_id": 14977,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.942,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000314673.8",
"gene_symbol": "SNX14",
"hgnc_id": 14977,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2670delT",
"hgvs_p": "p.Cys890fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000682083.1",
"gene_symbol": "ENSG00000271793",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2580delT",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 20,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Autosomal recessive spinocerebellar ataxia 20|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}