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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: 10-68194363-GTT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68194363&ref=GTT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MYPN",
"hgnc_id": 23246,
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_032578.4",
"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": "TTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": "F",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5762,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 3963,
"cds_start": 2926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032578.4",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358913.10",
"protein_coding": true,
"protein_id": "NP_115967.2",
"strand": true,
"transcript": "NM_032578.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5762,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 3963,
"cds_start": 2926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358913.10",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032578.4",
"protein_coding": true,
"protein_id": "ENSP00000351790.5",
"strand": true,
"transcript": "ENST00000358913.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "V",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 4017,
"cds_start": 2980,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540630.6",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2980_2982delGTTinsTTC",
"hgvs_p": "p.Val994Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441668.3",
"strand": true,
"transcript": "ENST00000540630.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 3963,
"cds_start": 2926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613327.5",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480757.2",
"strand": true,
"transcript": "ENST00000613327.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2101,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354393.7",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2101_2103delGTTinsTTC",
"hgvs_p": "p.Val701Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346369.2",
"strand": true,
"transcript": "ENST00000354393.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 3963,
"cds_start": 2926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256267.2",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243196.1",
"strand": true,
"transcript": "NM_001256267.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "V",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6066,
"cdna_start": 3467,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2044,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256268.2",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2044_2046delGTTinsTTC",
"hgvs_p": "p.Val682Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243197.1",
"strand": true,
"transcript": "NM_001256268.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "V",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5965,
"cdna_start": 3366,
"cds_end": null,
"cds_length": 4041,
"cds_start": 3004,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016833.2",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.3004_3006delGTTinsTTC",
"hgvs_p": "p.Val1002Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872322.1",
"strand": true,
"transcript": "XM_017016833.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "V",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": 3722,
"cds_end": null,
"cds_length": 4041,
"cds_start": 3004,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425876.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.3004_3006delGTTinsTTC",
"hgvs_p": "p.Val1002Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281832.1",
"strand": true,
"transcript": "XM_047425876.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 3963,
"cds_start": 2926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016834.3",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.2926_2928delGTTinsTTC",
"hgvs_p": "p.Val976Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872323.1",
"strand": true,
"transcript": "XM_017016834.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 946,
"aa_ref": "V",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 2120,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1804,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425877.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.1804_1806delGTTinsTTC",
"hgvs_p": "p.Val602Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281833.1",
"strand": true,
"transcript": "XM_047425877.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 946,
"aa_ref": "V",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8702,
"cdna_start": 6103,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1804,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425878.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.1804_1806delGTTinsTTC",
"hgvs_p": "p.Val602Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281834.1",
"strand": true,
"transcript": "XM_047425878.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 946,
"aa_ref": "V",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1804,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425879.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.1804_1806delGTTinsTTC",
"hgvs_p": "p.Val602Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281835.1",
"strand": true,
"transcript": "XM_047425879.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 881,
"aa_ref": "V",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1609,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425880.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "c.1609_1611delGTTinsTTC",
"hgvs_p": "p.Val537Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281836.1",
"strand": true,
"transcript": "XM_047425880.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000688812.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.*189_*191delGTTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510658.1",
"strand": true,
"transcript": "ENST00000688812.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000690544.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.*2197_*2199delGTTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508989.1",
"strand": true,
"transcript": "ENST00000690544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_045662.4",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.2463_2465delGTTinsTTC",
"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": "NR_045662.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_045663.4",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.3000_3002delGTTinsTTC",
"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": "NR_045663.4",
"transcript_support_level": null
},
{
"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": 4744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000688812.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.*189_*191delGTTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510658.1",
"strand": true,
"transcript": "ENST00000688812.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000690544.1",
"gene_hgnc_id": 23246,
"gene_symbol": "MYPN",
"hgvs_c": "n.*2197_*2199delGTTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508989.1",
"strand": true,
"transcript": "ENST00000690544.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
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}
]
}