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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: 14-77311959-GG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77311959&ref=GG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POMT2",
"hgnc_id": 19743,
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_013382.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2253,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013382.7",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261534.9",
"protein_coding": true,
"protein_id": "NP_037514.2",
"strand": false,
"transcript": "NM_013382.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2253,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261534.9",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013382.7",
"protein_coding": true,
"protein_id": "ENSP00000261534.4",
"strand": false,
"transcript": "ENST00000261534.9",
"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": 948,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556326.5",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "n.249-5519_249-5518delCCinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450630.1",
"strand": false,
"transcript": "ENST00000556326.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 799,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2400,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682795.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507574.1",
"strand": false,
"transcript": "ENST00000682795.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 515,
"cds_end": null,
"cds_length": 2337,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923942.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594001.1",
"strand": false,
"transcript": "ENST00000923942.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 513,
"cds_end": null,
"cds_length": 2334,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947742.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617801.1",
"strand": false,
"transcript": "ENST00000947742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 444,
"cds_end": null,
"cds_length": 2325,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682247.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507213.1",
"strand": false,
"transcript": "ENST00000682247.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 763,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 482,
"cds_end": null,
"cds_length": 2292,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905355.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575414.1",
"strand": false,
"transcript": "ENST00000905355.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4604,
"cdna_start": 469,
"cds_end": null,
"cds_length": 2112,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682467.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508062.1",
"strand": false,
"transcript": "ENST00000682467.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 669,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2010,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947744.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617803.1",
"strand": false,
"transcript": "ENST00000947744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1812,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947743.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617802.1",
"strand": false,
"transcript": "ENST00000947743.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 826,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2481,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431312.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287268.1",
"strand": false,
"transcript": "XM_047431312.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 813,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2442,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536675.3",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534977.1",
"strand": false,
"transcript": "XM_011536675.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 763,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4914,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2292,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431313.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287269.1",
"strand": false,
"transcript": "XM_047431313.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 685,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2058,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431315.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287271.1",
"strand": false,
"transcript": "XM_047431315.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2022,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431316.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287272.1",
"strand": false,
"transcript": "XM_047431316.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 660,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1983,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536677.4",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534979.1",
"strand": false,
"transcript": "XM_011536677.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1794,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431318.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.322_323delCCinsAG",
"hgvs_p": "p.Pro108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287274.1",
"strand": false,
"transcript": "XM_047431318.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 597,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": null,
"cds_end": null,
"cds_length": 1794,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556394.2",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.249-7160_249-7159delCCinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451967.2",
"strand": false,
"transcript": "ENST00000556394.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431314.1",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "c.1-5519_1-5518delCCinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287270.1",
"strand": false,
"transcript": "XM_047431314.1",
"transcript_support_level": null
},
{
"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": 5647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000452340.7",
"gene_hgnc_id": 19743,
"gene_symbol": "POMT2",
"hgvs_c": "n.345_346delCCinsAG",
"hgvs_p": null,
"intron_rank": null,
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