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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: 19-10258452-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10258452&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10258452,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001411149.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "NM_015956.3",
"protein_id": "NP_057040.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 311,
"cds_start": 592,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253099.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015956.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000253099.11",
"protein_id": "ENSP00000253099.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 311,
"cds_start": 592,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015956.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253099.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000590669.5",
"protein_id": "ENSP00000465143.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 263,
"cds_start": 592,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590669.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000930030.1",
"protein_id": "ENSP00000600089.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 369,
"cds_start": 592,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930030.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "NM_001411149.1",
"protein_id": "NP_001398078.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 357,
"cds_start": 592,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411149.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000393733.6",
"protein_id": "ENSP00000377334.2",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 357,
"cds_start": 592,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393733.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000906087.1",
"protein_id": "ENSP00000576146.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 351,
"cds_start": 592,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906087.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000906090.1",
"protein_id": "ENSP00000576149.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 350,
"cds_start": 592,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906090.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "NM_146387.2",
"protein_id": "NP_666499.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 311,
"cds_start": 592,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_146387.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000307422.9",
"protein_id": "ENSP00000306902.5",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 311,
"cds_start": 592,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307422.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"transcript": "ENST00000930029.1",
"protein_id": "ENSP00000600088.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 310,
"cds_start": 589,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930029.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "ENST00000592514.5",
"protein_id": "ENSP00000468569.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 299,
"cds_start": 592,
"cds_end": null,
"cds_length": 901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592514.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"transcript": "NM_146388.2",
"protein_id": "NP_666500.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 263,
"cds_start": 592,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_146388.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Arg",
"transcript": "ENST00000906088.1",
"protein_id": "ENSP00000576147.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 236,
"cds_start": 367,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906088.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"transcript": "ENST00000588502.5",
"protein_id": "ENSP00000466169.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 220,
"cds_start": 589,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588502.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Gly96Arg",
"transcript": "ENST00000590702.1",
"protein_id": "ENSP00000465050.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 119,
"cds_start": 286,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.446-1165G>A",
"hgvs_p": null,
"transcript": "ENST00000906089.1",
"protein_id": "ENSP00000576148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000591054.5",
"protein_id": "ENSP00000465635.1",
"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": "ENST00000591054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000591054.5",
"protein_id": "ENSP00000465635.1",
"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": "ENST00000591054.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIMASI",
"gene_hgnc_id": 56357,
"hgvs_c": "n.358+1760C>T",
"hgvs_p": null,
"transcript": "ENST00000592893.1",
"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": "pseudogene",
"feature": "ENST00000592893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIMASI",
"gene_hgnc_id": 56357,
"hgvs_c": "n.175+1760C>T",
"hgvs_p": null,
"transcript": "ENST00000724568.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000724568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"hgvs_c": "c.*218G>A",
"hgvs_p": null,
"transcript": "ENST00000590150.5",
"protein_id": "ENSP00000466050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590150.5"
}
],
"gene_symbol": "MRPL4",
"gene_hgnc_id": 14276,
"dbsnp": "rs150980348",
"frequency_reference_population": 0.000050807026,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000424121,
"gnomad_genomes_af": 0.000131489,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025037556886672974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.513,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001411149.1",
"gene_symbol": "MRPL4",
"hgnc_id": 14276,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000592893.1",
"gene_symbol": "LIMASI",
"hgnc_id": 56357,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.358+1760C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}