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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-19353097-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19353097&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 19353097,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001173454.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "NM_000284.4",
"protein_id": "NP_000275.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 390,
"cds_start": 434,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "ENST00000422285.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000284.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000422285.7",
"protein_id": "ENSP00000394382.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 390,
"cds_start": 434,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "NM_000284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422285.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Cys211Phe",
"transcript": "ENST00000947567.1",
"protein_id": "ENSP00000617626.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 456,
"cds_start": 632,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947567.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Cys183Phe",
"transcript": "ENST00000947577.1",
"protein_id": "ENSP00000617636.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 443,
"cds_start": 548,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947577.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000881112.1",
"protein_id": "ENSP00000551171.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 436,
"cds_start": 434,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881112.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Cys190Phe",
"transcript": "ENST00000881116.1",
"protein_id": "ENSP00000551175.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 435,
"cds_start": 569,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881116.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Cys183Phe",
"transcript": "NM_001173454.2",
"protein_id": "NP_001166925.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 428,
"cds_start": 548,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173454.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Cys183Phe",
"transcript": "ENST00000423505.6",
"protein_id": "ENSP00000406473.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 428,
"cds_start": 548,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423505.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Cys173Phe",
"transcript": "ENST00000417819.6",
"protein_id": "ENSP00000404616.2",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 418,
"cds_start": 518,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417819.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Cys152Phe",
"transcript": "ENST00000947571.1",
"protein_id": "ENSP00000617630.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 412,
"cds_start": 455,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947571.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000881114.1",
"protein_id": "ENSP00000551173.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 405,
"cds_start": 434,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881114.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.476G>T",
"hgvs_p": "p.Cys159Phe",
"transcript": "ENST00000927451.1",
"protein_id": "ENSP00000597510.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 404,
"cds_start": 476,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927451.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000947576.1",
"protein_id": "ENSP00000617635.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 400,
"cds_start": 434,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947576.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Cys152Phe",
"transcript": "NM_001173455.2",
"protein_id": "NP_001166926.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 397,
"cds_start": 455,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173455.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Cys152Phe",
"transcript": "ENST00000355808.10",
"protein_id": "ENSP00000348062.6",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 397,
"cds_start": 455,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355808.10"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Cys183Phe",
"transcript": "ENST00000881118.1",
"protein_id": "ENSP00000551177.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 397,
"cds_start": 548,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881118.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000881115.1",
"protein_id": "ENSP00000551174.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 391,
"cds_start": 434,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881115.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000947570.1",
"protein_id": "ENSP00000617629.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 388,
"cds_start": 434,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947570.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Cys142Phe",
"transcript": "ENST00000947568.1",
"protein_id": "ENSP00000617627.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 387,
"cds_start": 425,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947568.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Cys145Phe",
"transcript": "ENST00000947573.1",
"protein_id": "ENSP00000617632.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 381,
"cds_start": 434,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947573.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Cys125Phe",
"transcript": "ENST00000927453.1",
"protein_id": "ENSP00000597512.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 370,
"cds_start": 374,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927453.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Cys152Phe",
"transcript": "ENST00000881117.1",
"protein_id": "ENSP00000551176.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 366,
"cds_start": 455,
"cds_end": null,
"cds_length": 1101,
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}