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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: 14-45224047-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45224047&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45224047,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018353.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "NM_018353.5",
"protein_id": "NP_060823.3",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310806.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018353.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000310806.9",
"protein_id": "ENSP00000309790.4",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310806.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2585G>T",
"hgvs_p": "p.Gly862Val",
"transcript": "ENST00000919501.1",
"protein_id": "ENSP00000589560.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2585,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919501.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000901126.1",
"protein_id": "ENSP00000571185.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901126.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000919496.1",
"protein_id": "ENSP00000589555.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919496.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000919499.1",
"protein_id": "ENSP00000589558.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919499.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000952537.1",
"protein_id": "ENSP00000622596.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952537.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2495G>T",
"hgvs_p": "p.Gly832Val",
"transcript": "ENST00000919495.1",
"protein_id": "ENSP00000589554.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2495,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919495.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2321G>T",
"hgvs_p": "p.Gly774Val",
"transcript": "ENST00000919498.1",
"protein_id": "ENSP00000589557.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919498.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000919502.1",
"protein_id": "ENSP00000589561.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919502.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2294G>T",
"hgvs_p": "p.Gly765Val",
"transcript": "ENST00000919497.1",
"protein_id": "ENSP00000589556.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2294,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919497.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2069G>T",
"hgvs_p": "p.Gly690Val",
"transcript": "ENST00000919500.1",
"protein_id": "ENSP00000589559.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 975,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919500.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000919503.1",
"protein_id": "ENSP00000589562.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 971,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919503.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "XM_005267833.6",
"protein_id": "XP_005267890.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267833.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "XM_017021425.2",
"protein_id": "XP_016876914.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021425.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "XM_047431545.1",
"protein_id": "XP_047287501.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431545.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "XM_047431546.1",
"protein_id": "XP_047287502.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431546.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "XM_047431547.1",
"protein_id": "XP_047287503.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 898,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431547.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1376G>T",
"hgvs_p": "p.Gly459Val",
"transcript": "XM_011536923.1",
"protein_id": "XP_011535225.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 744,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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+2696G>T",
"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": null,
"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": [
"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.77G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"hgvs_c": "n.-2G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469020.5"
}
],
"gene_symbol": "MIS18BP1",
"gene_hgnc_id": 20190,
"dbsnp": "rs35141317",
"frequency_reference_population": 0.0012597064,
"hom_count_reference_population": 16,
"allele_count_reference_population": 2033,
"gnomad_exomes_af": 0.000712939,
"gnomad_genomes_af": 0.00650638,
"gnomad_exomes_ac": 1042,
"gnomad_genomes_ac": 991,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0028645098209381104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0846,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.047,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018353.5",
"gene_symbol": "MIS18BP1",
"hgnc_id": 20190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2540G>T",
"hgvs_p": "p.Gly847Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}