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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: 7-55492402-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55492402&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55492402,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321242.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Gly70Cys",
"transcript": "NM_030796.5",
"protein_id": "NP_110423.3",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 172,
"cds_start": 208,
"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": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Gly70Cys",
"transcript": "ENST00000285279.10",
"protein_id": "ENSP00000285279.5",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 172,
"cds_start": 208,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Gly53Cys",
"transcript": "ENST00000418904.5",
"protein_id": "ENSP00000393210.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 155,
"cds_start": 157,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.227G>T",
"hgvs_p": "p.Gly76Val",
"transcript": "NM_001321242.1",
"protein_id": "NP_001308171.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 212,
"cds_start": 227,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.95G>T",
"hgvs_p": "p.Gly32Val",
"transcript": "NM_001321243.2",
"protein_id": "NP_001308172.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 181,
"cds_start": 95,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Gly70Cys",
"transcript": "ENST00000922470.1",
"protein_id": "ENSP00000592529.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 171,
"cds_start": 208,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Gly68Cys",
"transcript": "NM_001321244.2",
"protein_id": "NP_001308173.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 170,
"cds_start": 202,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Gly68Cys",
"transcript": "ENST00000427700.1",
"protein_id": "ENSP00000407356.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 170,
"cds_start": 202,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.199G>T",
"hgvs_p": "p.Gly67Cys",
"transcript": "NM_001284283.2",
"protein_id": "NP_001271212.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 169,
"cds_start": 199,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.199G>T",
"hgvs_p": "p.Gly67Cys",
"transcript": "ENST00000625836.2",
"protein_id": "ENSP00000486983.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 169,
"cds_start": 199,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.95G>T",
"hgvs_p": "p.Gly32Val",
"transcript": "NM_001321249.2",
"protein_id": "NP_001308178.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 168,
"cds_start": 95,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.95G>T",
"hgvs_p": "p.Gly32Val",
"transcript": "NM_001321250.2",
"protein_id": "NP_001308179.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 168,
"cds_start": 95,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.95G>T",
"hgvs_p": "p.Gly32Val",
"transcript": "NM_001321251.1",
"protein_id": "NP_001308180.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 168,
"cds_start": 95,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.181G>T",
"hgvs_p": "p.Gly61Cys",
"transcript": "NM_001284284.1",
"protein_id": "NP_001271213.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 181,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.181G>T",
"hgvs_p": "p.Gly61Cys",
"transcript": "ENST00000433959.5",
"protein_id": "ENSP00000415230.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 181,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Gly53Cys",
"transcript": "NM_001284282.2",
"protein_id": "NP_001271211.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 155,
"cds_start": 157,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "NM_001321246.2",
"protein_id": "NP_001308175.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 146,
"cds_start": 130,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.19G>T",
"hgvs_p": "p.Gly7Cys",
"transcript": "NM_001321248.2",
"protein_id": "NP_001308177.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 109,
"cds_start": 19,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.19G>T",
"hgvs_p": "p.Gly7Cys",
"transcript": "ENST00000454227.5",
"protein_id": "ENSP00000411447.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 109,
"cds_start": 19,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Gly3Cys",
"transcript": "ENST00000428097.5",
"protein_id": "ENSP00000389601.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 105,
"cds_start": 7,
"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": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Gly3Cys",
"transcript": "ENST00000428648.5",
"protein_id": "ENSP00000413948.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 105,
"cds_start": 7,
"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",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VOPP1",
"gene_hgnc_id": 34518,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Gly3Cys",
"transcript": "ENST00000453256.5",
"protein_id": "ENSP00000395533.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 105,
"cds_start": 7,
"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": "ENST00000453256.5"
},
{
"aa_ref": "G",
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{
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],
"gene_symbol": "VOPP1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6301280856132507,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9171,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.909,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321242.1",
"gene_symbol": "VOPP1",
"hgnc_id": 34518,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Gly76Val"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}