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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: 19-3637458-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3637458&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3637458,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001300849.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2076G>A",
"hgvs_p": "p.Pro692Pro",
"transcript": "ENST00000589578.5",
"protein_id": "ENSP00000466363.1",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 707,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589578.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.*366G>A",
"hgvs_p": null,
"transcript": "ENST00000537021.1",
"protein_id": "ENSP00000444779.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1920+1426G>A",
"hgvs_p": null,
"transcript": "NM_012398.3",
"protein_id": "NP_036530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335312.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012398.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1920+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000335312.8",
"protein_id": "ENSP00000335333.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012398.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335312.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2076G>A",
"hgvs_p": "p.Pro692Pro",
"transcript": "NM_001300849.2",
"protein_id": "NP_001287778.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 707,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300849.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2043G>A",
"hgvs_p": "p.Pro681Pro",
"transcript": "XM_047438534.1",
"protein_id": "XP_047294490.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 696,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438534.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1941G>A",
"hgvs_p": "p.Pro647Pro",
"transcript": "XM_047438536.1",
"protein_id": "XP_047294492.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1941,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438536.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1080G>A",
"hgvs_p": "p.Pro360Pro",
"transcript": "XM_047438537.1",
"protein_id": "XP_047294493.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 375,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.*366G>A",
"hgvs_p": null,
"transcript": "XM_047438533.1",
"protein_id": "XP_047294489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2037+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000876625.1",
"protein_id": "ENSP00000546684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2022+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000967141.1",
"protein_id": "ENSP00000637200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1998+78G>A",
"hgvs_p": null,
"transcript": "ENST00000679885.1",
"protein_id": "ENSP00000504894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2070+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000918776.1",
"protein_id": "ENSP00000588835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": null,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918776.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2052+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000918774.1",
"protein_id": "ENSP00000588833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.2022+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000876619.1",
"protein_id": "ENSP00000546678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1998+78G>A",
"hgvs_p": null,
"transcript": "ENST00000876624.1",
"protein_id": "ENSP00000546683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1914+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000876630.1",
"protein_id": "ENSP00000546689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1908+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000876628.1",
"protein_id": "ENSP00000546687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876628.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1989+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000918775.1",
"protein_id": "ENSP00000588834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1887+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000876622.1",
"protein_id": "ENSP00000546681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": null,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1920+1426G>A",
"hgvs_p": null,
"transcript": "NM_001195733.2",
"protein_id": "NP_001182662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195733.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PIP5K1C",
"gene_hgnc_id": 8996,
"hgvs_c": "c.1920+1426G>A",
"hgvs_p": null,
"transcript": "ENST00000539785.5",
"protein_id": "ENSP00000445992.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539785.5"
},
{
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"phenotype_combined": "not provided",
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}
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}