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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: X-155491566-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=155491566&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 155491566,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018196.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "NM_018196.4",
"protein_id": "NP_060666.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334398.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018196.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000334398.8",
"protein_id": "ENSP00000335261.3",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018196.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334398.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMLHE-AS1",
"gene_hgnc_id": 44261,
"hgvs_c": "n.472-1314T>C",
"hgvs_p": null,
"transcript": "ENST00000433624.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000433624.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Asn435Ser",
"transcript": "ENST00000902557.1",
"protein_id": "ENSP00000572616.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 444,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902557.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Asn423Ser",
"transcript": "ENST00000675642.1",
"protein_id": "ENSP00000502604.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 432,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675642.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902548.1",
"protein_id": "ENSP00000572607.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902548.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902549.1",
"protein_id": "ENSP00000572608.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902549.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902550.1",
"protein_id": "ENSP00000572609.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902550.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902551.1",
"protein_id": "ENSP00000572610.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902551.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902554.1",
"protein_id": "ENSP00000572613.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902554.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000902555.1",
"protein_id": "ENSP00000572614.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902555.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000960922.1",
"protein_id": "ENSP00000630981.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960922.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Asn412Ser",
"transcript": "ENST00000960923.1",
"protein_id": "ENSP00000630982.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960923.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Asn372Ser",
"transcript": "ENST00000902556.1",
"protein_id": "ENSP00000572615.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 381,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902556.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asn353Ser",
"transcript": "ENST00000902552.1",
"protein_id": "ENSP00000572611.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 362,
"cds_start": 1058,
"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": "ENST00000902552.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Asn333Ser",
"transcript": "ENST00000902553.1",
"protein_id": "ENSP00000572612.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 342,
"cds_start": 998,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902553.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.941A>G",
"hgvs_p": "p.Asn314Ser",
"transcript": "ENST00000960924.1",
"protein_id": "ENSP00000630983.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 323,
"cds_start": 941,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960924.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asn361Ser",
"transcript": "XM_011531182.4",
"protein_id": "XP_011529484.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 370,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531182.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asn361Ser",
"transcript": "XM_047442234.1",
"protein_id": "XP_047298190.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 370,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442234.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Asn344Ser",
"transcript": "XM_047442235.1",
"protein_id": "XP_047298191.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 353,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442235.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Asn344Ser",
"transcript": "XM_047442236.1",
"protein_id": "XP_047298192.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 353,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442236.1"
},
{
"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": "TMLHE",
"gene_hgnc_id": 18308,
"hgvs_c": "n.309A>G",
"hgvs_p": null,
"transcript": "ENST00000449645.2",
"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,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}