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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: 6-85514180-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85514180&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SNX14",
"hgnc_id": 14977,
"hgvs_c": "c.2510G>A",
"hgvs_p": "p.Arg837Gln",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001350532.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000271793",
"hgnc_id": null,
"hgvs_c": "n.*2357G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000682083.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.3681,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 20",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7907751798629761,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_153816.6",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314673.8",
"protein_coding": true,
"protein_id": "NP_722523.1",
"strand": false,
"transcript": "NM_153816.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000314673.8",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153816.6",
"protein_coding": true,
"protein_id": "ENSP00000313121.3",
"strand": false,
"transcript": "ENST00000314673.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000369627.6",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2420G>A",
"hgvs_p": "p.Arg807Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358641.2",
"strand": false,
"transcript": "ENST00000369627.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 763,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2288,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000346348.7",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2288G>A",
"hgvs_p": "p.Arg763Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257769.3",
"strand": false,
"transcript": "ENST00000346348.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000682083.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000271793",
"hgvs_c": "n.*2357G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506859.1",
"strand": false,
"transcript": "ENST00000682083.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000682083.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000271793",
"hgvs_c": "n.*2357G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506859.1",
"strand": false,
"transcript": "ENST00000682083.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 985,
"aa_ref": "R",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2564,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000684717.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2564G>A",
"hgvs_p": "p.Arg855Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507024.1",
"strand": false,
"transcript": "ENST00000684717.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 967,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001350532.2",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2510G>A",
"hgvs_p": "p.Arg837Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337461.1",
"strand": false,
"transcript": "NM_001350532.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 967,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 2669,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000684570.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2510G>A",
"hgvs_p": "p.Arg837Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508127.1",
"strand": false,
"transcript": "ENST00000684570.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 958,
"aa_ref": "R",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000903336.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2483G>A",
"hgvs_p": "p.Arg828Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573395.1",
"strand": false,
"transcript": "ENST00000903336.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001350533.2",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337462.1",
"strand": false,
"transcript": "NM_001350533.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 945,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4212,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000682497.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507869.1",
"strand": false,
"transcript": "ENST00000682497.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 945,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000683479.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507368.1",
"strand": false,
"transcript": "ENST00000683479.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000939210.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Arg814Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609269.1",
"strand": false,
"transcript": "ENST00000939210.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 943,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 2680,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000903330.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573389.1",
"strand": false,
"transcript": "ENST00000903330.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 942,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000903343.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2435G>A",
"hgvs_p": "p.Arg812Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573402.1",
"strand": false,
"transcript": "ENST00000903343.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 939,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000508658.6",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422814.2",
"strand": false,
"transcript": "ENST00000508658.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 938,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000683541.1",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507116.1",
"strand": false,
"transcript": "ENST00000683541.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 937,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001297614.3",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2420G>A",
"hgvs_p": "p.Arg807Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284543.1",
"strand": false,
"transcript": "NM_001297614.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 936,
"aa_ref": "R",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001350534.2",
"gene_hgnc_id": 14977,
"gene_symbol": "SNX14",
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337463.1",
"strand": false,
"transcript": "NM_001350534.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
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