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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: 7-55472983-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55472983&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55472983,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001321242.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.391G>C",
"hgvs_p": "p.Gly131Arg",
"transcript": "NM_030796.5",
"protein_id": "NP_110423.3",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 172,
"cds_start": 391,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285279.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030796.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.391G>C",
"hgvs_p": "p.Gly131Arg",
"transcript": "ENST00000285279.10",
"protein_id": "ENSP00000285279.5",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 172,
"cds_start": 391,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030796.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285279.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.340G>C",
"hgvs_p": "p.Gly114Arg",
"transcript": "ENST00000418904.5",
"protein_id": "ENSP00000393210.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 155,
"cds_start": 340,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418904.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.410G>C",
"hgvs_p": "p.Arg137Pro",
"transcript": "NM_001321242.1",
"protein_id": "NP_001308171.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 212,
"cds_start": 410,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321242.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.317G>C",
"hgvs_p": "p.Arg106Pro",
"transcript": "NM_001321243.2",
"protein_id": "NP_001308172.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 181,
"cds_start": 317,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321243.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.388G>C",
"hgvs_p": "p.Gly130Arg",
"transcript": "ENST00000922470.1",
"protein_id": "ENSP00000592529.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 171,
"cds_start": 388,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922470.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Gly129Arg",
"transcript": "NM_001321244.2",
"protein_id": "NP_001308173.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 170,
"cds_start": 385,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321244.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Gly129Arg",
"transcript": "ENST00000427700.1",
"protein_id": "ENSP00000407356.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 170,
"cds_start": 385,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427700.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Gly128Arg",
"transcript": "NM_001284283.2",
"protein_id": "NP_001271212.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 169,
"cds_start": 382,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284283.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Gly128Arg",
"transcript": "ENST00000625836.2",
"protein_id": "ENSP00000486983.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 169,
"cds_start": 382,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625836.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Arg93Pro",
"transcript": "NM_001321249.2",
"protein_id": "NP_001308178.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321249.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Arg93Pro",
"transcript": "NM_001321250.2",
"protein_id": "NP_001308179.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321250.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Arg93Pro",
"transcript": "NM_001321251.1",
"protein_id": "NP_001308180.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 168,
"cds_start": 278,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321251.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Gly122Arg",
"transcript": "NM_001284284.1",
"protein_id": "NP_001271213.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 163,
"cds_start": 364,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284284.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Gly122Arg",
"transcript": "ENST00000433959.5",
"protein_id": "ENSP00000415230.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 163,
"cds_start": 364,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433959.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.340G>C",
"hgvs_p": "p.Gly114Arg",
"transcript": "NM_001284282.2",
"protein_id": "NP_001271211.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 155,
"cds_start": 340,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284282.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Gly105Arg",
"transcript": "NM_001321246.2",
"protein_id": "NP_001308175.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 146,
"cds_start": 313,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321246.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.197G>C",
"hgvs_p": "p.Arg66Pro",
"transcript": "NM_001321247.2",
"protein_id": "NP_001308176.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 141,
"cds_start": 197,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321247.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.202G>C",
"hgvs_p": "p.Gly68Arg",
"transcript": "NM_001321248.2",
"protein_id": "NP_001308177.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 109,
"cds_start": 202,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321248.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.202G>C",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000454227.5",
"protein_id": "ENSP00000411447.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 109,
"cds_start": 202,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454227.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"transcript": "ENST00000428097.5",
"protein_id": "ENSP00000389601.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 105,
"cds_start": 190,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428097.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"transcript": "ENST00000428648.5",
"protein_id": "ENSP00000413948.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 105,
"cds_start": 190,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428648.5"
},
{
"aa_ref": "G",
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"canonical": false,
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}
],
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}