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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: 20-45421428-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45421428&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45421428,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000279036.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "NM_015937.6",
"protein_id": "NP_057021.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 578,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000279036.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "ENST00000279036.12",
"protein_id": "ENSP00000279036.6",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 578,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_015937.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Gly313Asp",
"transcript": "ENST00000639382.1",
"protein_id": "ENSP00000491534.1",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 392,
"cds_start": 938,
"cds_end": null,
"cds_length": 1180,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Gly267Asp",
"transcript": "ENST00000638353.1",
"protein_id": "ENSP00000491538.1",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 317,
"cds_start": 800,
"cds_end": null,
"cds_length": 955,
"cdna_start": 815,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1033+735G>A",
"hgvs_p": null,
"transcript": "ENST00000372689.9",
"protein_id": "ENSP00000361774.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "ENST00000639292.2",
"protein_id": "ENSP00000491678.2",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 605,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Gly362Asp",
"transcript": "ENST00000640324.1",
"protein_id": "ENSP00000491074.1",
"transcript_support_level": 5,
"aa_start": 362,
"aa_end": null,
"aa_length": 580,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "ENST00000638691.2",
"protein_id": "ENSP00000492094.2",
"transcript_support_level": 3,
"aa_start": 360,
"aa_end": null,
"aa_length": 550,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Gly304Asp",
"transcript": "NM_001184728.3",
"protein_id": "NP_001171657.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 522,
"cds_start": 911,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Gly304Asp",
"transcript": "ENST00000543458.7",
"protein_id": "ENSP00000441577.1",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 522,
"cds_start": 911,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "ENST00000638594.1",
"protein_id": "ENSP00000491697.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 505,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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.1079G>A",
"hgvs_p": "p.Gly360Asp",
"transcript": "ENST00000639499.1",
"protein_id": "ENSP00000491170.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 495,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Gly258Asp",
"transcript": "NM_001184730.3",
"protein_id": "NP_001171659.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 476,
"cds_start": 773,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Gly258Asp",
"transcript": "ENST00000279035.14",
"protein_id": "ENSP00000279035.8",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 476,
"cds_start": 773,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000640210.1",
"protein_id": "ENSP00000491164.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 441,
"cds_start": 668,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Gly166Asp",
"transcript": "ENST00000545755.3",
"protein_id": "ENSP00000443963.3",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 384,
"cds_start": 497,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Gly325Asp",
"transcript": "ENST00000638478.1",
"protein_id": "ENSP00000491233.1",
"transcript_support_level": 3,
"aa_start": 325,
"aa_end": null,
"aa_length": 353,
"cds_start": 974,
"cds_end": null,
"cds_length": 1064,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Gly46Asp",
"transcript": "ENST00000639239.1",
"protein_id": "ENSP00000492843.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 127,
"cds_start": 137,
"cds_end": null,
"cds_length": 384,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 505,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.1079G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*610G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*579G>A",
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.11G>A",
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*428G>A",
"hgvs_p": null,
"transcript": "ENST00000638383.1",
"protein_id": "ENSP00000492295.1",
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