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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: 13-110651077-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110651077&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110651077,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024537.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "NM_024537.4",
"protein_id": "NP_078813.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 564,
"cds_start": 1011,
"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": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "ENST00000257347.9",
"protein_id": "ENSP00000257347.4",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 564,
"cds_start": 1011,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "ENST00000939453.1",
"protein_id": "ENSP00000609512.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 612,
"cds_start": 1011,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Pro335Pro",
"transcript": "ENST00000890914.1",
"protein_id": "ENSP00000560973.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 562,
"cds_start": 1005,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "ENST00000939450.1",
"protein_id": "ENSP00000609509.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 562,
"cds_start": 1011,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.927C>A",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000939451.1",
"protein_id": "ENSP00000609510.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 536,
"cds_start": 927,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "ENST00000890913.1",
"protein_id": "ENSP00000560972.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 531,
"cds_start": 1011,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.417C>A",
"hgvs_p": "p.Pro139Pro",
"transcript": "ENST00000890915.1",
"protein_id": "ENSP00000560974.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 417,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Pro75Pro",
"transcript": "NM_001352252.2",
"protein_id": "NP_001339181.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 302,
"cds_start": 225,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "XM_047430605.1",
"protein_id": "XP_047286561.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 487,
"cds_start": 1011,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Pro224Pro",
"transcript": "XM_006719953.4",
"protein_id": "XP_006720016.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 451,
"cds_start": 672,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.666C>A",
"hgvs_p": "p.Pro222Pro",
"transcript": "XM_047430606.1",
"protein_id": "XP_047286562.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 449,
"cds_start": 666,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Pro337Pro",
"transcript": "XM_047430607.1",
"protein_id": "XP_047286563.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 446,
"cds_start": 1011,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Pro75Pro",
"transcript": "XM_047430609.1",
"protein_id": "XP_047286565.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 302,
"cds_start": 225,
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.920-3838C>A",
"hgvs_p": null,
"transcript": "ENST00000939452.1",
"protein_id": "ENSP00000609511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"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": 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.524-3838C>A",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.988-3838C>A",
"hgvs_p": null,
"transcript": "XM_017020742.3",
"protein_id": "XP_016876231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"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": 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": 9,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.988-3838C>A",
"hgvs_p": null,
"transcript": "XM_047430608.1",
"protein_id": "XP_047286564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"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": 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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.445C>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.90C>A",
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.1203C>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.104C>A",
"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,
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"splice_prediction_selected": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}