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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: 4-102657844-AAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102657844&ref=AAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "MANBA",
"hgnc_id": 6831,
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_005908.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 89,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Beta-D-mannosidosis,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1540,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005908.4",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647097.2",
"protein_coding": true,
"protein_id": "NP_005899.3",
"strand": false,
"transcript": "NM_005908.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1540,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647097.2",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005908.4",
"protein_coding": true,
"protein_id": "ENSP00000495247.1",
"strand": false,
"transcript": "ENST00000647097.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 925,
"aa_ref": "V",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1678,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000642252.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1678_1679delGT",
"hgvs_p": "p.Val560fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495483.1",
"strand": false,
"transcript": "ENST00000642252.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": "V",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1639,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954426.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1639_1640delGT",
"hgvs_p": "p.Val547fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624485.1",
"strand": false,
"transcript": "ENST00000954426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 895,
"aa_ref": "V",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1588,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954430.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1588_1589delGT",
"hgvs_p": "p.Val530fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624489.1",
"strand": false,
"transcript": "ENST00000954430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 886,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1540,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644159.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494462.1",
"strand": false,
"transcript": "ENST00000644159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2637,
"cds_start": 1537,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954427.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1537_1538delGT",
"hgvs_p": "p.Val513fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624486.1",
"strand": false,
"transcript": "ENST00000954427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": "V",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1411,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921431.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1411_1412delGT",
"hgvs_p": "p.Val471fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591490.1",
"strand": false,
"transcript": "ENST00000921431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 824,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1540,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000921430.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591489.1",
"strand": false,
"transcript": "ENST00000921430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 822,
"aa_ref": "V",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1369,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000505239.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1369_1370delGT",
"hgvs_p": "p.Val457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427322.1",
"strand": false,
"transcript": "ENST00000505239.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1306,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954428.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1306_1307delGT",
"hgvs_p": "p.Val436fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624487.1",
"strand": false,
"transcript": "ENST00000954428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 783,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1540,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910543.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580602.1",
"strand": false,
"transcript": "ENST00000910543.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1540,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910542.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1540_1541delGT",
"hgvs_p": "p.Val514fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580601.1",
"strand": false,
"transcript": "ENST00000910542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 755,
"aa_ref": "V",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1168,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921426.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1168_1169delGT",
"hgvs_p": "p.Val390fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591485.1",
"strand": false,
"transcript": "ENST00000921426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 742,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1129,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000954429.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1129_1130delGT",
"hgvs_p": "p.Val377fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624488.1",
"strand": false,
"transcript": "ENST00000954429.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 618,
"aa_ref": "V",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1857,
"cds_start": 757,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921429.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.757_758delGT",
"hgvs_p": "p.Val253fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591488.1",
"strand": false,
"transcript": "ENST00000921429.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 854,
"aa_ref": "V",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7470,
"cdna_start": 5084,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1465,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047415692.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1465_1466delGT",
"hgvs_p": "p.Val489fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271648.1",
"strand": false,
"transcript": "XM_047415692.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7348,
"cdna_start": 4962,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1465,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047415693.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1465_1466delGT",
"hgvs_p": "p.Val489fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271649.1",
"strand": false,
"transcript": "XM_047415693.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 663,
"aa_ref": "V",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1992,
"cds_start": 892,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415694.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.892_893delGT",
"hgvs_p": "p.Val298fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271650.1",
"strand": false,
"transcript": "XM_047415694.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921427.1",
"gene_hgnc_id": 6831,
"gene_symbol": "MANBA",
"hgvs_c": "c.1485+6839_1485+6840delGT",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591486.1",
"strand": false,
"transcript": "ENST00000921427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954425.1",
"gene_hgnc_id": 6831,
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