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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-19355480-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=19355480&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 19355480,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001173454.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Arg245Ser",
"transcript": "NM_000284.4",
"protein_id": "NP_000275.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 390,
"cds_start": 735,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "ENST00000422285.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000284.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Arg245Ser",
"transcript": "ENST00000422285.7",
"protein_id": "ENSP00000394382.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 390,
"cds_start": 735,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "NM_000284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422285.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.933A>C",
"hgvs_p": "p.Arg311Ser",
"transcript": "ENST00000947567.1",
"protein_id": "ENSP00000617626.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 456,
"cds_start": 933,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947567.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.849A>C",
"hgvs_p": "p.Arg283Ser",
"transcript": "ENST00000947577.1",
"protein_id": "ENSP00000617636.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 443,
"cds_start": 849,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947577.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.873A>C",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000881112.1",
"protein_id": "ENSP00000551171.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 436,
"cds_start": 873,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881112.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.870A>C",
"hgvs_p": "p.Arg290Ser",
"transcript": "ENST00000881116.1",
"protein_id": "ENSP00000551175.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 435,
"cds_start": 870,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881116.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.849A>C",
"hgvs_p": "p.Arg283Ser",
"transcript": "NM_001173454.2",
"protein_id": "NP_001166925.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 428,
"cds_start": 849,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173454.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.849A>C",
"hgvs_p": "p.Arg283Ser",
"transcript": "ENST00000423505.6",
"protein_id": "ENSP00000406473.2",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 428,
"cds_start": 849,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423505.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.819A>C",
"hgvs_p": "p.Arg273Ser",
"transcript": "ENST00000417819.6",
"protein_id": "ENSP00000404616.2",
"transcript_support_level": 3,
"aa_start": 273,
"aa_end": null,
"aa_length": 418,
"cds_start": 819,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417819.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.756A>C",
"hgvs_p": "p.Arg252Ser",
"transcript": "ENST00000947571.1",
"protein_id": "ENSP00000617630.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 412,
"cds_start": 756,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947571.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Arg245Ser",
"transcript": "ENST00000881114.1",
"protein_id": "ENSP00000551173.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 405,
"cds_start": 735,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881114.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.777A>C",
"hgvs_p": "p.Arg259Ser",
"transcript": "ENST00000927451.1",
"protein_id": "ENSP00000597510.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 404,
"cds_start": 777,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927451.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Arg245Ser",
"transcript": "ENST00000947576.1",
"protein_id": "ENSP00000617635.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 400,
"cds_start": 735,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947576.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.756A>C",
"hgvs_p": "p.Arg252Ser",
"transcript": "NM_001173455.2",
"protein_id": "NP_001166926.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 397,
"cds_start": 756,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173455.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.756A>C",
"hgvs_p": "p.Arg252Ser",
"transcript": "ENST00000355808.10",
"protein_id": "ENSP00000348062.6",
"transcript_support_level": 3,
"aa_start": 252,
"aa_end": null,
"aa_length": 397,
"cds_start": 756,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355808.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.756A>C",
"hgvs_p": "p.Arg252Ser",
"transcript": "ENST00000881118.1",
"protein_id": "ENSP00000551177.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 397,
"cds_start": 756,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881118.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.738A>C",
"hgvs_p": "p.Arg246Ser",
"transcript": "ENST00000881115.1",
"protein_id": "ENSP00000551174.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 391,
"cds_start": 738,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881115.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.729A>C",
"hgvs_p": "p.Arg243Ser",
"transcript": "ENST00000947570.1",
"protein_id": "ENSP00000617629.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 388,
"cds_start": 729,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947570.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.726A>C",
"hgvs_p": "p.Arg242Ser",
"transcript": "ENST00000947568.1",
"protein_id": "ENSP00000617627.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 387,
"cds_start": 726,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947568.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Arg245Ser",
"transcript": "ENST00000947573.1",
"protein_id": "ENSP00000617632.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 381,
"cds_start": 735,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947573.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.675A>C",
"hgvs_p": "p.Arg225Ser",
"transcript": "ENST00000927453.1",
"protein_id": "ENSP00000597512.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 370,
"cds_start": 675,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927453.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHA1",
"gene_hgnc_id": 8806,
"hgvs_c": "c.663A>C",
"hgvs_p": "p.Arg221Ser",
"transcript": "ENST00000881117.1",
"protein_id": "ENSP00000551176.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 366,
"cds_start": 663,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 758,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.76,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001173454.2",
"gene_symbol": "PDHA1",
"hgnc_id": 8806,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,XL",
"hgvs_c": "c.849A>C",
"hgvs_p": "p.Arg283Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}