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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: 20-45418853-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45418853&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45418853,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000279036.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "NM_015937.6",
"protein_id": "NP_057021.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 578,
"cds_start": 367,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000279036.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000279036.12",
"protein_id": "ENSP00000279036.6",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 578,
"cds_start": 367,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_015937.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000372689.9",
"protein_id": "ENSP00000361774.4",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 511,
"cds_start": 367,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Val113Leu",
"transcript": "ENST00000638489.1",
"protein_id": "ENSP00000491566.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 313,
"cds_start": 337,
"cds_end": null,
"cds_length": 942,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.327G>T",
"hgvs_p": "p.Val109Val",
"transcript": "ENST00000639382.1",
"protein_id": "ENSP00000491534.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 392,
"cds_start": 327,
"cds_end": null,
"cds_length": 1180,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.189G>T",
"hgvs_p": "p.Val63Val",
"transcript": "ENST00000638353.1",
"protein_id": "ENSP00000491538.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 317,
"cds_start": 189,
"cds_end": null,
"cds_length": 955,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.366-425G>T",
"hgvs_p": null,
"transcript": "ENST00000639235.1",
"protein_id": "ENSP00000492498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000639292.2",
"protein_id": "ENSP00000491678.2",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 605,
"cds_start": 367,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000638691.2",
"protein_id": "ENSP00000492094.2",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 550,
"cds_start": 367,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "NM_001184729.3",
"protein_id": "NP_001171658.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 511,
"cds_start": 367,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000638594.1",
"protein_id": "ENSP00000491697.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 505,
"cds_start": 367,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000639499.1",
"protein_id": "ENSP00000491170.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 495,
"cds_start": 367,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu",
"transcript": "ENST00000638478.1",
"protein_id": "ENSP00000491233.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 353,
"cds_start": 367,
"cds_end": null,
"cds_length": 1064,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.367G>T",
"hgvs_p": null,
"transcript": "ENST00000424705.3",
"protein_id": "ENSP00000491856.2",
"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": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.367G>T",
"hgvs_p": null,
"transcript": "ENST00000638383.1",
"protein_id": "ENSP00000492295.1",
"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": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.367G>T",
"hgvs_p": null,
"transcript": "ENST00000638387.1",
"protein_id": "ENSP00000492873.1",
"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": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.327G>T",
"hgvs_p": null,
"transcript": "ENST00000638445.1",
"protein_id": "ENSP00000491297.1",
"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": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.156G>T",
"hgvs_p": null,
"transcript": "ENST00000638537.1",
"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": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.367G>T",
"hgvs_p": null,
"transcript": "ENST00000638612.1",
"protein_id": "ENSP00000491458.1",
"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": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.189G>T",
"hgvs_p": null,
"transcript": "ENST00000638671.1",
"protein_id": "ENSP00000492875.1",
"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": 1944,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.2554G>T",
"hgvs_p": null,
"transcript": "ENST00000638689.1",
"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": 4314,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*24G>T",
"hgvs_p": null,
"transcript": "ENST00000638710.1",
"protein_id": "ENSP00000491406.1",
"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": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
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}
],
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"dbsnp": "rs141420243",
"frequency_reference_population": 0.0074036852,
"hom_count_reference_population": 84,
"allele_count_reference_population": 11949,
"gnomad_exomes_af": 0.00755323,
"gnomad_genomes_af": 0.00596848,
"gnomad_exomes_ac": 11040,
"gnomad_genomes_ac": 909,
"gnomad_exomes_homalt": 76,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009577572345733643,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8539999723434448,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.4534,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.727,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.977770104346795,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000279036.12",
"gene_symbol": "PIGT",
"hgnc_id": 14938,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Val123Leu"
}
],
"clinvar_disease": "Multiple congenital anomalies-hypotonia-seizures syndrome 3,PIGT-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "not specified|Multiple congenital anomalies-hypotonia-seizures syndrome 3|not provided|PIGT-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}