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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: 13-110644470-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110644470&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110644470,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024537.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1331C>G",
"hgvs_p": "p.Pro444Arg",
"transcript": "NM_024537.4",
"protein_id": "NP_078813.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 564,
"cds_start": 1331,
"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": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1331C>G",
"hgvs_p": "p.Pro444Arg",
"transcript": "ENST00000257347.9",
"protein_id": "ENSP00000257347.4",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 564,
"cds_start": 1331,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1475C>G",
"hgvs_p": "p.Pro492Arg",
"transcript": "ENST00000939453.1",
"protein_id": "ENSP00000609512.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 612,
"cds_start": 1475,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1325C>G",
"hgvs_p": "p.Pro442Arg",
"transcript": "ENST00000890914.1",
"protein_id": "ENSP00000560973.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 562,
"cds_start": 1325,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Arg403Gly",
"transcript": "ENST00000939450.1",
"protein_id": "ENSP00000609509.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 562,
"cds_start": 1207,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1247C>G",
"hgvs_p": "p.Pro416Arg",
"transcript": "ENST00000939451.1",
"protein_id": "ENSP00000609510.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 536,
"cds_start": 1247,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1196C>G",
"hgvs_p": "p.Pro399Arg",
"transcript": "ENST00000939452.1",
"protein_id": "ENSP00000609511.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 519,
"cds_start": 1196,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.800C>G",
"hgvs_p": "p.Pro267Arg",
"transcript": "ENST00000960810.1",
"protein_id": "ENSP00000630869.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 387,
"cds_start": 800,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Pro246Arg",
"transcript": "ENST00000890915.1",
"protein_id": "ENSP00000560974.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 366,
"cds_start": 737,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"transcript": "NM_001352252.2",
"protein_id": "NP_001339181.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 302,
"cds_start": 545,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.152C>G",
"hgvs_p": "p.Pro51Arg",
"transcript": "ENST00000620794.1",
"protein_id": "ENSP00000480523.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 89,
"cds_start": 152,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620794.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.992C>G",
"hgvs_p": "p.Pro331Arg",
"transcript": "XM_006719953.4",
"protein_id": "XP_006720016.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 451,
"cds_start": 992,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Pro329Arg",
"transcript": "XM_047430606.1",
"protein_id": "XP_047286562.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 449,
"cds_start": 986,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"transcript": "XM_047430609.1",
"protein_id": "XP_047286565.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 302,
"cds_start": 545,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.*113C>G",
"hgvs_p": null,
"transcript": "XM_047430607.1",
"protein_id": "XP_047286563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1317+1497C>G",
"hgvs_p": null,
"transcript": "ENST00000890913.1",
"protein_id": "ENSP00000560972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.602C>G",
"hgvs_p": null,
"transcript": "ENST00000375781.9",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000375781.9"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.326C>G",
"hgvs_p": null,
"transcript": "ENST00000480437.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480437.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.765C>G",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.410C>G",
"hgvs_p": null,
"transcript": "ENST00000487253.6",
"protein_id": "ENSP00000438267.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000487253.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.1650C>G",
"hgvs_p": null,
"transcript": "ENST00000535398.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000535398.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.1831C>G",
"hgvs_p": null,
"transcript": "ENST00000535516.5",
"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": "ENST00000535516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"computational_score_selected": 0.38351261615753174,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
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"verdict": "Uncertain_significance",
"transcript": "NM_024537.4",
"gene_symbol": "CARS2",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro444Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}