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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: 11-119100777-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119100777&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119100777,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000354202.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "NM_001382.4",
"protein_id": "NP_001373.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 408,
"cds_start": 349,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": "ENST00000354202.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000354202.9",
"protein_id": "ENSP00000346142.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 408,
"cds_start": 349,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": "NM_001382.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000409993.6",
"protein_id": "ENSP00000386597.2",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 408,
"cds_start": 349,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.262G>T",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000682791.1",
"protein_id": "ENSP00000507312.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 379,
"cds_start": 262,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "XM_005271422.4",
"protein_id": "XP_005271479.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 434,
"cds_start": 349,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "XM_047426508.1",
"protein_id": "XP_047282464.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 408,
"cds_start": 349,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.28G>T",
"hgvs_p": "p.Val10Leu",
"transcript": "XM_011542648.3",
"protein_id": "XP_011540950.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 327,
"cds_start": 28,
"cds_end": null,
"cds_length": 984,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "XM_047426509.1",
"protein_id": "XP_047282465.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 313,
"cds_start": 349,
"cds_end": null,
"cds_length": 942,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "XM_047426510.1",
"protein_id": "XP_047282466.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 250,
"cds_start": 349,
"cds_end": null,
"cds_length": 753,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.349G>T",
"hgvs_p": "p.Val117Leu",
"transcript": "XM_017017294.3",
"protein_id": "XP_016872783.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 242,
"cds_start": 349,
"cds_end": null,
"cds_length": 729,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*54G>T",
"hgvs_p": null,
"transcript": "ENST00000392834.7",
"protein_id": "ENSP00000376579.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*95G>T",
"hgvs_p": null,
"transcript": "ENST00000414373.5",
"protein_id": "ENSP00000402019.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.199G>T",
"hgvs_p": null,
"transcript": "ENST00000442480.1",
"protein_id": "ENSP00000406591.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.525G>T",
"hgvs_p": null,
"transcript": "ENST00000445653.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.910G>T",
"hgvs_p": null,
"transcript": "ENST00000460183.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.352G>T",
"hgvs_p": null,
"transcript": "ENST00000525456.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.1091G>T",
"hgvs_p": null,
"transcript": "ENST00000530052.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.140G>T",
"hgvs_p": null,
"transcript": "ENST00000533687.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*2G>T",
"hgvs_p": null,
"transcript": "ENST00000640102.1",
"protein_id": "ENSP00000492027.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*24G>T",
"hgvs_p": null,
"transcript": "ENST00000640747.1",
"protein_id": "ENSP00000492730.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.551G>T",
"hgvs_p": null,
"transcript": "ENST00000682191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.551G>T",
"hgvs_p": null,
"transcript": "ENST00000682192.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.*54G>T",
"hgvs_p": null,
"transcript": "ENST00000682232.1",
"protein_id": "ENSP00000507302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
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"verdict": "Likely_pathogenic",
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}
],
"message": null
}