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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: 10-91485272-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=91485272&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 91485272,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001284274.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.His355Asp",
"transcript": "NM_182765.6",
"protein_id": "NP_877497.4",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 776,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298068.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182765.6"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.His355Asp",
"transcript": "ENST00000298068.10",
"protein_id": "ENSP00000298068.5",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 776,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182765.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298068.10"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.13C>G",
"hgvs_p": "p.His5Asp",
"transcript": "ENST00000371667.1",
"protein_id": "ENSP00000360731.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 426,
"cds_start": 13,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "n.659C>G",
"hgvs_p": null,
"transcript": "ENST00000498446.1",
"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": "ENST00000498446.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.His359Asp",
"transcript": "NM_001284274.3",
"protein_id": "NP_001271203.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 780,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284274.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.His359Asp",
"transcript": "ENST00000446394.5",
"protein_id": "ENSP00000401023.1",
"transcript_support_level": 2,
"aa_start": 359,
"aa_end": null,
"aa_length": 780,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446394.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.His248Asp",
"transcript": "NM_001348365.2",
"protein_id": "NP_001335294.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 669,
"cds_start": 742,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348365.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.His360Asp",
"transcript": "XM_047424656.1",
"protein_id": "XP_047280612.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 781,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424656.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.His253Asp",
"transcript": "XM_047424657.1",
"protein_id": "XP_047280613.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 674,
"cds_start": 757,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424657.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.His253Asp",
"transcript": "XM_047424658.1",
"protein_id": "XP_047280614.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 674,
"cds_start": 757,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424658.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.His253Asp",
"transcript": "XM_047424659.1",
"protein_id": "XP_047280615.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 674,
"cds_start": 757,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424659.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.His248Asp",
"transcript": "XM_024447828.2",
"protein_id": "XP_024303596.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 669,
"cds_start": 742,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447828.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.His248Asp",
"transcript": "XM_047424660.1",
"protein_id": "XP_047280616.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 669,
"cds_start": 742,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424660.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.His360Asp",
"transcript": "XM_047424661.1",
"protein_id": "XP_047280617.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 514,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424661.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.His360Asp",
"transcript": "XM_047424662.1",
"protein_id": "XP_047280618.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 411,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424662.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "n.1158C>G",
"hgvs_p": null,
"transcript": "NR_104291.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104291.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD2",
"gene_hgnc_id": 26736,
"hgvs_c": "n.1158C>G",
"hgvs_p": null,
"transcript": "NR_145526.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145526.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECTD2-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.368+39756G>C",
"hgvs_p": null,
"transcript": "ENST00000688440.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000688440.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HECTD2-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.218+39756G>C",
"hgvs_p": null,
"transcript": "ENST00000700888.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700888.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECTD2-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.288+39756G>C",
"hgvs_p": null,
"transcript": "ENST00000838016.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECTD2-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.372+39756G>C",
"hgvs_p": null,
"transcript": "ENST00000838017.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECTD2-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.249+39756G>C",
"hgvs_p": null,
"transcript": "ENST00000838018.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}