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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: 17-75620008-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75620008&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75620008,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000645453.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7431T>G",
"hgvs_p": "p.Asn2477Lys",
"transcript": "NM_001395058.1",
"protein_id": "NP_001381987.1",
"transcript_support_level": null,
"aa_start": 2477,
"aa_end": null,
"aa_length": 3096,
"cds_start": 7431,
"cds_end": null,
"cds_length": 9291,
"cdna_start": 7689,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "ENST00000645453.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7431T>G",
"hgvs_p": "p.Asn2477Lys",
"transcript": "ENST00000645453.3",
"protein_id": "ENSP00000495242.3",
"transcript_support_level": null,
"aa_start": 2477,
"aa_end": null,
"aa_length": 3096,
"cds_start": 7431,
"cds_end": null,
"cds_length": 9291,
"cdna_start": 7689,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "NM_001395058.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7317T>G",
"hgvs_p": "p.Asn2439Lys",
"transcript": "NM_001309242.2",
"protein_id": "NP_001296171.1",
"transcript_support_level": null,
"aa_start": 2439,
"aa_end": null,
"aa_length": 3058,
"cds_start": 7317,
"cds_end": null,
"cds_length": 9177,
"cdna_start": 7575,
"cdna_end": null,
"cdna_length": 9800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.2988T>G",
"hgvs_p": "p.Asn996Lys",
"transcript": "ENST00000642007.2",
"protein_id": "ENSP00000492911.2",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1589,
"cds_start": 2988,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 3078,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.129T>G",
"hgvs_p": "p.Asn43Lys",
"transcript": "ENST00000583140.5",
"protein_id": "ENSP00000488354.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 155,
"cds_start": 129,
"cds_end": null,
"cds_length": 468,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6777T>G",
"hgvs_p": "p.Asn2259Lys",
"transcript": "XM_017025120.3",
"protein_id": "XP_016880609.1",
"transcript_support_level": null,
"aa_start": 2259,
"aa_end": null,
"aa_length": 2878,
"cds_start": 6777,
"cds_end": null,
"cds_length": 8637,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6762T>G",
"hgvs_p": "p.Asn2254Lys",
"transcript": "XM_017025121.3",
"protein_id": "XP_016880610.1",
"transcript_support_level": null,
"aa_start": 2254,
"aa_end": null,
"aa_length": 2873,
"cds_start": 6762,
"cds_end": null,
"cds_length": 8622,
"cdna_start": 7020,
"cdna_end": null,
"cdna_length": 9245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6741T>G",
"hgvs_p": "p.Asn2247Lys",
"transcript": "XM_017025122.3",
"protein_id": "XP_016880611.1",
"transcript_support_level": null,
"aa_start": 2247,
"aa_end": null,
"aa_length": 2866,
"cds_start": 6741,
"cds_end": null,
"cds_length": 8601,
"cdna_start": 6999,
"cdna_end": null,
"cdna_length": 9224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6777T>G",
"hgvs_p": "p.Asn2259Lys",
"transcript": "XM_017025123.3",
"protein_id": "XP_016880612.1",
"transcript_support_level": null,
"aa_start": 2259,
"aa_end": null,
"aa_length": 2856,
"cds_start": 6777,
"cds_end": null,
"cds_length": 8571,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 9194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6651T>G",
"hgvs_p": "p.Asn2217Lys",
"transcript": "XM_017025124.3",
"protein_id": "XP_016880613.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2836,
"cds_start": 6651,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 6909,
"cdna_end": null,
"cdna_length": 9134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6501T>G",
"hgvs_p": "p.Asn2167Lys",
"transcript": "XM_017025125.3",
"protein_id": "XP_016880614.1",
"transcript_support_level": null,
"aa_start": 2167,
"aa_end": null,
"aa_length": 2786,
"cds_start": 6501,
"cds_end": null,
"cds_length": 8361,
"cdna_start": 6759,
"cdna_end": null,
"cdna_length": 8984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6777T>G",
"hgvs_p": "p.Asn2259Lys",
"transcript": "XM_047436788.1",
"protein_id": "XP_047292744.1",
"transcript_support_level": null,
"aa_start": 2259,
"aa_end": null,
"aa_length": 2719,
"cds_start": 6777,
"cds_end": null,
"cds_length": 8160,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 8464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6090T>G",
"hgvs_p": "p.Asn2030Lys",
"transcript": "XM_017025127.3",
"protein_id": "XP_016880616.1",
"transcript_support_level": null,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2649,
"cds_start": 6090,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 6348,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6063T>G",
"hgvs_p": "p.Asn2021Lys",
"transcript": "XM_017025128.3",
"protein_id": "XP_016880617.1",
"transcript_support_level": null,
"aa_start": 2021,
"aa_end": null,
"aa_length": 2640,
"cds_start": 6063,
"cds_end": null,
"cds_length": 7923,
"cdna_start": 6078,
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"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6777T>G",
"hgvs_p": "p.Asn2259Lys",
"transcript": "XM_047436789.1",
"protein_id": "XP_047292745.1",
"transcript_support_level": null,
"aa_start": 2259,
"aa_end": null,
"aa_length": 2582,
"cds_start": 6777,
"cds_end": null,
"cds_length": 7749,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5214T>G",
"hgvs_p": "p.Asn1738Lys",
"transcript": "XM_017025129.3",
"protein_id": "XP_016880618.1",
"transcript_support_level": null,
"aa_start": 1738,
"aa_end": null,
"aa_length": 2357,
"cds_start": 5214,
"cds_end": null,
"cds_length": 7074,
"cdna_start": 5310,
"cdna_end": null,
"cdna_length": 7535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5154T>G",
"hgvs_p": "p.Asn1718Lys",
"transcript": "XM_017025130.3",
"protein_id": "XP_016880619.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 2337,
"cds_start": 5154,
"cds_end": null,
"cds_length": 7014,
"cdna_start": 5266,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5049T>G",
"hgvs_p": "p.Asn1683Lys",
"transcript": "XM_017025131.3",
"protein_id": "XP_016880620.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5049,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 6736,
"cdna_end": null,
"cdna_length": 8961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.4971T>G",
"hgvs_p": "p.Asn1657Lys",
"transcript": "XM_047436790.1",
"protein_id": "XP_047292746.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 2276,
"cds_start": 4971,
"cds_end": null,
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"cdna_start": 6639,
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"cdna_length": 8864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.4902T>G",
"hgvs_p": "p.Asn1634Lys",
"transcript": "XM_047436791.1",
"protein_id": "XP_047292747.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 2253,
"cds_start": 4902,
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"cdna_start": 5131,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.4824T>G",
"hgvs_p": "p.Asn1608Lys",
"transcript": "XM_047436792.1",
"protein_id": "XP_047292748.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 2227,
"cds_start": 4824,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 6925,
"cdna_end": null,
"cdna_length": 9150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.4446T>G",
"hgvs_p": "p.Asn1482Lys",
"transcript": "XM_047436793.1",
"protein_id": "XP_047292749.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4446,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 4534,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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},
{
"aa_ref": null,
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"downstream_gene_variant"
],
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}
],
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"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10513228178024292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": 0.0887,
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.706,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645453.3",
"gene_symbol": "MYO15B",
"hgnc_id": 14083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7431T>G",
"hgvs_p": "p.Asn2477Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}