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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: 17-50550731-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50550731&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SPATA20",
"hgnc_id": 26125,
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_022827.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 413661,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 802,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022827.4",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000006658.11",
"protein_coding": true,
"protein_id": "NP_073738.2",
"strand": true,
"transcript": "NM_022827.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 802,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000006658.11",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022827.4",
"protein_coding": true,
"protein_id": "ENSP00000006658.6",
"strand": true,
"transcript": "ENST00000006658.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 786,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1149,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000356488.8",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Glu383Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348878.4",
"strand": true,
"transcript": "ENST00000356488.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000503127.5",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "n.*1120A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426228.1",
"strand": true,
"transcript": "ENST00000503127.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000511937.5",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "n.1149A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489476.1",
"strand": true,
"transcript": "ENST00000511937.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000635113.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "n.1161A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635113.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000503127.5",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "n.*1120A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426228.1",
"strand": true,
"transcript": "ENST00000503127.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 824,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2691,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860314.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1263A>G",
"hgvs_p": "p.Glu421Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530373.1",
"strand": true,
"transcript": "ENST00000860314.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 810,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953008.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623067.1",
"strand": true,
"transcript": "ENST00000953008.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 809,
"aa_ref": "E",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860317.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1218A>G",
"hgvs_p": "p.Glu406Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530376.1",
"strand": true,
"transcript": "ENST00000860317.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 800,
"aa_ref": "E",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1191,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860311.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1191A>G",
"hgvs_p": "p.Glu397Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530370.1",
"strand": true,
"transcript": "ENST00000860311.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 799,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860313.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530372.1",
"strand": true,
"transcript": "ENST00000860313.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 799,
"aa_ref": "E",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1188,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860315.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1188A>G",
"hgvs_p": "p.Glu396Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530374.1",
"strand": true,
"transcript": "ENST00000860315.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 799,
"aa_ref": "E",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1188,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860320.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1188A>G",
"hgvs_p": "p.Glu396Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530379.1",
"strand": true,
"transcript": "ENST00000860320.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 797,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1197,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912606.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582665.1",
"strand": true,
"transcript": "ENST00000912606.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 790,
"aa_ref": "E",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860310.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1170A>G",
"hgvs_p": "p.Glu390Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530369.1",
"strand": true,
"transcript": "ENST00000860310.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 786,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1149,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001258372.2",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Glu383Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245301.1",
"strand": true,
"transcript": "NM_001258372.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 786,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1149,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000634597.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Glu383Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489591.1",
"strand": true,
"transcript": "ENST00000634597.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 784,
"aa_ref": "E",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860316.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1143A>G",
"hgvs_p": "p.Glu381Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530375.1",
"strand": true,
"transcript": "ENST00000860316.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 783,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1140,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860309.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1140A>G",
"hgvs_p": "p.Glu380Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530368.1",
"strand": true,
"transcript": "ENST00000860309.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 783,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1149,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953010.1",
"gene_hgnc_id": 26125,
"gene_symbol": "SPATA20",
"hgvs_c": "c.1149A>G",
"hgvs_p": "p.Glu383Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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