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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: 2-95087429-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=95087429&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 95087429,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031902.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1221C>G",
"hgvs_p": "p.Asp407Glu",
"transcript": "NM_031902.5",
"protein_id": "NP_114108.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 430,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": "ENST00000272418.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031902.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1221C>G",
"hgvs_p": "p.Asp407Glu",
"transcript": "ENST00000272418.7",
"protein_id": "ENSP00000272418.2",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 430,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": "NM_031902.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272418.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289685",
"gene_hgnc_id": null,
"hgvs_c": "n.*2100C>G",
"hgvs_p": null,
"transcript": "ENST00000695456.1",
"protein_id": "ENSP00000511928.1",
"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": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289685",
"gene_hgnc_id": null,
"hgvs_c": "n.*2100C>G",
"hgvs_p": null,
"transcript": "ENST00000695456.1",
"protein_id": "ENSP00000511928.1",
"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": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695456.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000882061.1",
"protein_id": "ENSP00000552120.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 425,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882061.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1149C>G",
"hgvs_p": "p.Asp383Glu",
"transcript": "ENST00000969117.1",
"protein_id": "ENSP00000639176.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 406,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969117.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1116C>G",
"hgvs_p": "p.Asp372Glu",
"transcript": "ENST00000882059.1",
"protein_id": "ENSP00000552118.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 395,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882059.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Asp361Glu",
"transcript": "ENST00000695439.2",
"protein_id": "ENSP00000511914.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 384,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695439.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Asp361Glu",
"transcript": "ENST00000882060.1",
"protein_id": "ENSP00000552119.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 384,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882060.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Asp351Glu",
"transcript": "ENST00000969116.1",
"protein_id": "ENSP00000639175.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 374,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969116.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asp328Glu",
"transcript": "NM_001321995.2",
"protein_id": "NP_001308924.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 351,
"cds_start": 984,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321995.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asp328Glu",
"transcript": "ENST00000695433.1",
"protein_id": "ENSP00000511924.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 351,
"cds_start": 984,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695433.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asp328Glu",
"transcript": "ENST00000695434.1",
"protein_id": "ENSP00000511925.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 351,
"cds_start": 984,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695434.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asp328Glu",
"transcript": "ENST00000695436.1",
"protein_id": "ENSP00000511927.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 351,
"cds_start": 984,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695436.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Asp241Glu",
"transcript": "NM_001321996.2",
"protein_id": "NP_001308925.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 264,
"cds_start": 723,
"cds_end": null,
"cds_length": 795,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321996.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Asp241Glu",
"transcript": "NM_001321997.2",
"protein_id": "NP_001308926.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 264,
"cds_start": 723,
"cds_end": null,
"cds_length": 795,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321997.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.*374C>G",
"hgvs_p": null,
"transcript": "ENST00000345084.11",
"protein_id": "ENSP00000341660.5",
"transcript_support_level": 2,
"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": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000345084.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.4352C>G",
"hgvs_p": null,
"transcript": "ENST00000461916.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461916.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.5134C>G",
"hgvs_p": null,
"transcript": "ENST00000475895.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 7132,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475895.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.689C>G",
"hgvs_p": null,
"transcript": "ENST00000482568.1",
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.3459C>G",
"hgvs_p": null,
"transcript": "ENST00000482821.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482821.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS5",
"gene_hgnc_id": 14498,
"hgvs_c": "n.2362C>G",
"hgvs_p": null,
"transcript": "ENST00000695432.1",
"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": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
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{
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],
"gene_symbol": "MRPS5",
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"dbsnp": "rs1675325114",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1978285014629364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1848,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.714,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031902.5",
"gene_symbol": "MRPS5",
"hgnc_id": 14498,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1221C>G",
"hgvs_p": "p.Asp407Glu"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695456.1",
"gene_symbol": "ENSG00000289685",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2100C>G",
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}
],
"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
}