← Back to variant description
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: 14-45223920-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45223920&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45223920,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_018353.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "NM_018353.5",
"protein_id": "NP_060823.3",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": "ENST00000310806.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018353.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000310806.9",
"protein_id": "ENSP00000309790.4",
"transcript_support_level": 1,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": "NM_018353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310806.9"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2712T>C",
"hgvs_p": "p.His904His",
"transcript": "ENST00000919501.1",
"protein_id": "ENSP00000589560.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2712,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919501.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000901126.1",
"protein_id": "ENSP00000571185.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901126.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000919496.1",
"protein_id": "ENSP00000589555.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919496.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000919499.1",
"protein_id": "ENSP00000589558.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919499.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000952537.1",
"protein_id": "ENSP00000622596.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952537.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2622T>C",
"hgvs_p": "p.His874His",
"transcript": "ENST00000919495.1",
"protein_id": "ENSP00000589554.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2622,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919495.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2448T>C",
"hgvs_p": "p.His816His",
"transcript": "ENST00000919498.1",
"protein_id": "ENSP00000589557.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919498.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000919502.1",
"protein_id": "ENSP00000589561.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919502.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2421T>C",
"hgvs_p": "p.His807His",
"transcript": "ENST00000919497.1",
"protein_id": "ENSP00000589556.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2421,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919497.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2196T>C",
"hgvs_p": "p.His732His",
"transcript": "ENST00000919500.1",
"protein_id": "ENSP00000589559.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 975,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919500.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "ENST00000919503.1",
"protein_id": "ENSP00000589562.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 971,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919503.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "XM_005267833.6",
"protein_id": "XP_005267890.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267833.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "XM_017021425.2",
"protein_id": "XP_016876914.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3140,
"cdna_end": null,
"cdna_length": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021425.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "XM_047431545.1",
"protein_id": "XP_047287501.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431545.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "XM_047431546.1",
"protein_id": "XP_047287502.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431546.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His",
"transcript": "XM_047431547.1",
"protein_id": "XP_047287503.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 898,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431547.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.1503T>C",
"hgvs_p": "p.His501His",
"transcript": "XM_011536923.1",
"protein_id": "XP_011535225.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 744,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "c.1840+2823T>C",
"hgvs_p": null,
"transcript": "XM_047431548.1",
"protein_id": "XP_047287504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000469020.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469020.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "n.204T>C",
"hgvs_p": null,
"transcript": "ENST00000554093.1",
"protein_id": "ENSP00000451783.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554093.1"
}
],
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"dbsnp": "rs770763324",
"frequency_reference_population": 7.074978e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.07498e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.081,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000025868668075982,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_018353.5",
"gene_symbol": "MIS18BP1",
"hgnc_id": 20190,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2667T>C",
"hgvs_p": "p.His889His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}