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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: 16-15696750-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15696750&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15696750,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000396354.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "NM_017668.3",
"protein_id": "NP_060138.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 837,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "ENST00000396354.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "ENST00000396354.6",
"protein_id": "ENSP00000379642.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 837,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "NM_017668.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "ENST00000396355.5",
"protein_id": "ENSP00000379643.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 837,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Arg249*",
"transcript": "ENST00000674581.1",
"protein_id": "ENSP00000502100.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 282,
"cds_start": 745,
"cds_end": null,
"cds_length": 849,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338*",
"transcript": "XM_047434260.1",
"protein_id": "XP_047290216.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306*",
"transcript": "XM_017023352.3",
"protein_id": "XP_016878841.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 339,
"cds_start": 916,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Thr307Met",
"transcript": "ENST00000577101.6",
"protein_id": "ENSP00000461729.2",
"transcript_support_level": 4,
"aa_start": 307,
"aa_end": null,
"aa_length": 384,
"cds_start": 920,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "NM_001143979.2",
"protein_id": "NP_001137451.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 335,
"cds_start": 837,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000574109.5",
"protein_id": "ENSP00000459875.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 173,
"cds_start": 399,
"cds_end": null,
"cds_length": 522,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Tyr86Tyr",
"transcript": "ENST00000576502.5",
"protein_id": "ENSP00000461748.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 153,
"cds_start": 258,
"cds_end": null,
"cds_length": 462,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Tyr72Tyr",
"transcript": "ENST00000572967.1",
"protein_id": "ENSP00000459918.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 139,
"cds_start": 216,
"cds_end": null,
"cds_length": 420,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.933C>T",
"hgvs_p": "p.Tyr311Tyr",
"transcript": "XM_006720897.5",
"protein_id": "XP_006720960.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 379,
"cds_start": 933,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "XM_047434258.1",
"protein_id": "XP_047290214.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 378,
"cds_start": 930,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "XM_047434259.1",
"protein_id": "XP_047290215.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 377,
"cds_start": 930,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "XM_005255396.6",
"protein_id": "XP_005255453.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 347,
"cds_start": 837,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "XM_006720900.5",
"protein_id": "XP_006720963.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 347,
"cds_start": 837,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "XM_047434262.1",
"protein_id": "XP_047290218.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 347,
"cds_start": 837,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "XM_017023349.3",
"protein_id": "XP_016878838.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 346,
"cds_start": 837,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Tyr278Tyr",
"transcript": "XM_017023350.2",
"protein_id": "XP_016878839.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 346,
"cds_start": 834,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Tyr278Tyr",
"transcript": "XM_047434263.1",
"protein_id": "XP_047290219.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 345,
"cds_start": 834,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Tyr279Tyr",
"transcript": "XM_017023353.3",
"protein_id": "XP_016878842.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 319,
"cds_start": 837,
"cds_end": null,
"cds_length": 960,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Tyr278Tyr",
"transcript": "XM_047434266.1",
"protein_id": "XP_047290222.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 318,
"cds_start": 834,
"cds_end": null,
"cds_length": 957,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
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}
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}