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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: 1-26442742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26442742&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26442742,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000236342.12",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "NM_205861.3",
"protein_id": "NP_995583.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 333,
"cds_start": 192,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "ENST00000236342.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000236342.12",
"protein_id": "ENSP00000236342.7",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 333,
"cds_start": 192,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "NM_205861.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000526219.5",
"protein_id": "ENSP00000434219.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 294,
"cds_start": 192,
"cds_end": null,
"cds_length": 885,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000434391.6",
"protein_id": "ENSP00000403529.2",
"transcript_support_level": 1,
"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": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.-88G>A",
"hgvs_p": null,
"transcript": "NM_001319959.2",
"protein_id": "NP_001306888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000703262.1",
"protein_id": "ENSP00000515247.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 354,
"cds_start": 192,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "NM_024887.4",
"protein_id": "NP_079163.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 334,
"cds_start": 192,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000360009.6",
"protein_id": "ENSP00000353104.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 334,
"cds_start": 192,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000528557.6",
"protein_id": "ENSP00000515248.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 333,
"cds_start": 192,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "NM_001243564.2",
"protein_id": "NP_001230493.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 299,
"cds_start": 192,
"cds_end": null,
"cds_length": 900,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000525682.6",
"protein_id": "ENSP00000434984.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 299,
"cds_start": 192,
"cds_end": null,
"cds_length": 900,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000703198.1",
"protein_id": "ENSP00000515227.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 297,
"cds_start": 192,
"cds_end": null,
"cds_length": 894,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "NM_001243565.2",
"protein_id": "NP_001230494.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 294,
"cds_start": 192,
"cds_end": null,
"cds_length": 885,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000703199.1",
"protein_id": "ENSP00000515228.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 260,
"cds_start": 192,
"cds_end": null,
"cds_length": 783,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000430232.5",
"protein_id": "ENSP00000397584.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 215,
"cds_start": 192,
"cds_end": null,
"cds_length": 648,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000374185.7",
"protein_id": "ENSP00000363300.3",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 209,
"cds_start": 192,
"cds_end": null,
"cds_length": 630,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000427245.6",
"protein_id": "ENSP00000399177.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 198,
"cds_start": 192,
"cds_end": null,
"cds_length": 597,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000436153.6",
"protein_id": "ENSP00000405604.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 172,
"cds_start": 192,
"cds_end": null,
"cds_length": 521,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000533087.5",
"protein_id": "ENSP00000436119.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 164,
"cds_start": 192,
"cds_end": null,
"cds_length": 497,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000531312.5",
"protein_id": "ENSP00000436764.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 129,
"cds_start": 192,
"cds_end": null,
"cds_length": 392,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000525165.5",
"protein_id": "ENSP00000434185.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 121,
"cds_start": 192,
"cds_end": null,
"cds_length": 367,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000525546.5",
"protein_id": "ENSP00000433976.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 84,
"cds_start": 192,
"cds_end": null,
"cds_length": 255,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*",
"transcript": "ENST00000525326.5",
"protein_id": "ENSP00000431407.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 70,
"cds_start": 192,
"cds_end": null,
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{
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}
],
"gene_symbol": "DHDDS",
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"dbsnp": "rs1553121545",
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"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": 0.1409,
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"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000236342.12",
"gene_symbol": "DHDDS",
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"effects": [
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"inheritance_mode": "AD,AR",
"hgvs_c": "c.192G>A",
"hgvs_p": "p.Trp64*"
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{
"score": 7,
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"criteria": [
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"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000746082.1",
"gene_symbol": "DHDDS-AS1",
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"effects": [
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}
],
"clinvar_disease": " type Ibb,Congenital disorder of glycosylation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital disorder of glycosylation, type Ibb",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}