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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: 13-110667379-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110667379&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110667379,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024537.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "NM_024537.4",
"protein_id": "NP_078813.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 564,
"cds_start": 880,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257347.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024537.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "ENST00000257347.9",
"protein_id": "ENSP00000257347.4",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 564,
"cds_start": 880,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024537.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257347.9"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "ENST00000939453.1",
"protein_id": "ENSP00000609512.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 612,
"cds_start": 880,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939453.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.His292Tyr",
"transcript": "ENST00000890914.1",
"protein_id": "ENSP00000560973.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 562,
"cds_start": 874,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890914.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "ENST00000939450.1",
"protein_id": "ENSP00000609509.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 562,
"cds_start": 880,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939450.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.His266Tyr",
"transcript": "ENST00000939451.1",
"protein_id": "ENSP00000609510.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 536,
"cds_start": 796,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939451.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "ENST00000890913.1",
"protein_id": "ENSP00000560972.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 531,
"cds_start": 880,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890913.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "ENST00000939452.1",
"protein_id": "ENSP00000609511.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 519,
"cds_start": 880,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939452.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "NM_001352253.3",
"protein_id": "NP_001339182.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 351,
"cds_start": 880,
"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": "NM_001352253.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.His32Tyr",
"transcript": "NM_001352252.2",
"protein_id": "NP_001339181.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 302,
"cds_start": 94,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352252.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.His49Tyr",
"transcript": "ENST00000537743.1",
"protein_id": "ENSP00000443027.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 91,
"cds_start": 145,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537743.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "XM_047430605.1",
"protein_id": "XP_047286561.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 487,
"cds_start": 880,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430605.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.His181Tyr",
"transcript": "XM_006719953.4",
"protein_id": "XP_006720016.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 451,
"cds_start": 541,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719953.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.His179Tyr",
"transcript": "XM_047430606.1",
"protein_id": "XP_047286562.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 449,
"cds_start": 535,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430606.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "XM_047430607.1",
"protein_id": "XP_047286563.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 446,
"cds_start": 880,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430607.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "XM_011521118.4",
"protein_id": "XP_011519420.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 362,
"cds_start": 880,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521118.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "XM_017020742.3",
"protein_id": "XP_016876231.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 358,
"cds_start": 880,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020742.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr",
"transcript": "XM_047430608.1",
"protein_id": "XP_047286564.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 358,
"cds_start": 880,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430608.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.His32Tyr",
"transcript": "XM_047430609.1",
"protein_id": "XP_047286565.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 302,
"cds_start": 94,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430609.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.523+9595C>T",
"hgvs_p": null,
"transcript": "ENST00000960810.1",
"protein_id": "ENSP00000630869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": null,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960810.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.394-16279C>T",
"hgvs_p": null,
"transcript": "ENST00000890915.1",
"protein_id": "ENSP00000560974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"transcript": "ENST00000481787.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000481787.6"
},
{
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{
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],
"gene_symbol": "CARS2",
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"dbsnp": "rs201349963",
"frequency_reference_population": 0.0000136353265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000136879,
"gnomad_genomes_af": 0.0000131306,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7053606510162354,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.698,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1927,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.361,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_024537.4",
"gene_symbol": "CARS2",
"hgnc_id": 25695,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.880C>T",
"hgvs_p": "p.His294Tyr"
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 27",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Combined oxidative phosphorylation defect type 27",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}