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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: 1-224289650-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224289650&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NVL",
"hgnc_id": 8070,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Val470Ala",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002533.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 105,
"alphamissense_prediction": null,
"alphamissense_score": 0.8334,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9279268980026245,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 856,
"aa_ref": "V",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002533.4",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Val470Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281701.11",
"protein_coding": true,
"protein_id": "NP_002524.2",
"strand": false,
"transcript": "NM_002533.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 856,
"aa_ref": "V",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000281701.11",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Val470Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002533.4",
"protein_coding": true,
"protein_id": "ENSP00000281701.6",
"strand": false,
"transcript": "ENST00000281701.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 750,
"aa_ref": "V",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000391875.6",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Val364Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375747.2",
"strand": false,
"transcript": "ENST00000391875.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 811,
"aa_ref": "V",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000933815.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1274T>C",
"hgvs_p": "p.Val425Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603874.1",
"strand": false,
"transcript": "ENST00000933815.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 777,
"aa_ref": "V",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933818.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Val470Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603877.1",
"strand": false,
"transcript": "ENST00000933818.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 765,
"aa_ref": "V",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001243147.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Val379Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230076.1",
"strand": false,
"transcript": "NM_001243147.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 765,
"aa_ref": "V",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000469075.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Val379Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417826.1",
"strand": false,
"transcript": "ENST00000469075.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 750,
"aa_ref": "V",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_206840.3",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Val364Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996671.1",
"strand": false,
"transcript": "NM_206840.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 667,
"aa_ref": "V",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 2004,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001243146.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.842T>C",
"hgvs_p": "p.Val281Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230075.1",
"strand": false,
"transcript": "NM_001243146.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 667,
"aa_ref": "V",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2004,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000340871.8",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.842T>C",
"hgvs_p": "p.Val281Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341362.4",
"strand": false,
"transcript": "ENST00000340871.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 667,
"aa_ref": "V",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 2004,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000482491.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.842T>C",
"hgvs_p": "p.Val281Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417213.2",
"strand": false,
"transcript": "ENST00000482491.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 664,
"aa_ref": "V",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933816.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Val470Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603875.1",
"strand": false,
"transcript": "ENST00000933816.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1980,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000469968.5",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Val273Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419420.2",
"strand": false,
"transcript": "ENST00000469968.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 917,
"aa_ref": "V",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001378.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Val531Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856867.1",
"strand": false,
"transcript": "XM_017001378.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017001379.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Val504Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856868.1",
"strand": false,
"transcript": "XM_017001379.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 889,
"aa_ref": "V",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001380.3",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Val531Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856869.1",
"strand": false,
"transcript": "XM_017001380.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 883,
"aa_ref": "V",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011544196.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Val497Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542498.1",
"strand": false,
"transcript": "XM_011544196.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 812,
"aa_ref": "V",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017001383.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Val426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856872.1",
"strand": false,
"transcript": "XM_017001383.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 789,
"aa_ref": "V",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017001384.2",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Val531Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856873.1",
"strand": false,
"transcript": "XM_017001384.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 765,
"aa_ref": "V",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421613.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Val379Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277569.1",
"strand": false,
"transcript": "XM_047421613.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 762,
"aa_ref": "V",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047421618.1",
"gene_hgnc_id": 8070,
"gene_symbol": "NVL",
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Val504Ala",
"intron_rank": null,
"intron_rank_end": null,
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