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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: 20-45424323-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45424323&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45424323,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000279036.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "NM_015937.6",
"protein_id": "NP_057021.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 578,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000279036.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000279036.12",
"protein_id": "ENSP00000279036.6",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 578,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_015937.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Trp",
"transcript": "ENST00000372689.9",
"protein_id": "ENSP00000361774.4",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 511,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Trp",
"transcript": "ENST00000639292.2",
"protein_id": "ENSP00000491678.2",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 605,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Arg450Trp",
"transcript": "ENST00000640324.1",
"protein_id": "ENSP00000491074.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 580,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000638691.2",
"protein_id": "ENSP00000492094.2",
"transcript_support_level": 3,
"aa_start": 448,
"aa_end": null,
"aa_length": 550,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"transcript": "NM_001184728.3",
"protein_id": "NP_001171657.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 522,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"transcript": "ENST00000543458.7",
"protein_id": "ENSP00000441577.1",
"transcript_support_level": 2,
"aa_start": 392,
"aa_end": null,
"aa_length": 522,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Trp",
"transcript": "NM_001184729.3",
"protein_id": "NP_001171658.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 511,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000638594.1",
"protein_id": "ENSP00000491697.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 505,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp",
"transcript": "ENST00000639499.1",
"protein_id": "ENSP00000491170.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 495,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "NM_001184730.3",
"protein_id": "NP_001171659.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 476,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "ENST00000279035.14",
"protein_id": "ENSP00000279035.8",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 476,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Trp",
"transcript": "ENST00000640210.1",
"protein_id": "ENSP00000491164.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 441,
"cds_start": 931,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Trp",
"transcript": "ENST00000545755.3",
"protein_id": "ENSP00000443963.3",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 384,
"cds_start": 760,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Trp",
"transcript": "ENST00000640123.1",
"protein_id": "ENSP00000492417.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 60,
"cds_start": 52,
"cds_end": null,
"cds_length": 183,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 847,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.1342C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*873C>T",
"hgvs_p": null,
"transcript": "ENST00000455050.2",
"protein_id": "ENSP00000407574.2",
"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": 1807,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.1220C>T",
"hgvs_p": null,
"transcript": "ENST00000638241.1",
"protein_id": null,
"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": 2006,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*842C>T",
"hgvs_p": null,
"transcript": "ENST00000638246.1",
"protein_id": "ENSP00000492883.1",
"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": 2032,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.274C>T",
"hgvs_p": null,
"transcript": "ENST00000638277.1",
"protein_id": "ENSP00000491588.1",
"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": 879,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*691C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000638387.1",
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.809,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.227,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000279036.12",
"gene_symbol": "PIGT",
"hgnc_id": 14938,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Trp"
}
],
"clinvar_disease": "Multiple congenital anomalies-hypotonia-seizures syndrome 3,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Multiple congenital anomalies-hypotonia-seizures syndrome 3|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}