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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: 6-53270651-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53270651&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53270651,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001242828.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "NM_021814.5",
"protein_id": "NP_068586.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304434.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021814.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000304434.11",
"protein_id": "ENSP00000306640.6",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021814.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304434.11"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.573A>G",
"hgvs_p": "p.Val191Val",
"transcript": "ENST00000542638.5",
"protein_id": "ENSP00000440728.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 262,
"cds_start": 573,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542638.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Tyr260Cys",
"transcript": "NM_001242828.2",
"protein_id": "NP_001229757.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 326,
"cds_start": 779,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242828.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Tyr260Cys",
"transcript": "ENST00000370918.8",
"protein_id": "ENSP00000359956.5",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 326,
"cds_start": 779,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370918.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Tyr242Cys",
"transcript": "ENST00000954546.1",
"protein_id": "ENSP00000624605.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 308,
"cds_start": 725,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954546.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "NM_001301856.2",
"protein_id": "NP_001288785.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301856.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893711.1",
"protein_id": "ENSP00000563770.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893711.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893717.1",
"protein_id": "ENSP00000563776.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893717.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893718.1",
"protein_id": "ENSP00000563777.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893718.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893719.1",
"protein_id": "ENSP00000563778.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893719.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893720.1",
"protein_id": "ENSP00000563779.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893720.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893721.1",
"protein_id": "ENSP00000563780.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893721.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893722.1",
"protein_id": "ENSP00000563781.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893722.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000926657.1",
"protein_id": "ENSP00000596716.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926657.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000954545.1",
"protein_id": "ENSP00000624604.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954545.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000954548.1",
"protein_id": "ENSP00000624607.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 299,
"cds_start": 698,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954548.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.692A>G",
"hgvs_p": "p.Tyr231Cys",
"transcript": "ENST00000893713.1",
"protein_id": "ENSP00000563772.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 692,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893713.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"transcript": "ENST00000893716.1",
"protein_id": "ENSP00000563775.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 295,
"cds_start": 698,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893716.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Tyr207Cys",
"transcript": "ENST00000893714.1",
"protein_id": "ENSP00000563773.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 273,
"cds_start": 620,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893714.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Tyr207Cys",
"transcript": "ENST00000926656.1",
"protein_id": "ENSP00000596715.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 273,
"cds_start": 620,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926656.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Tyr169Cys",
"transcript": "ENST00000926654.1",
"protein_id": "ENSP00000596713.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 235,
"cds_start": 506,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
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{
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{
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"intron_variant"
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{
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{
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"biotype": "protein_coding",
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],
"gene_symbol": "ELOVL5",
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"dbsnp": "rs41273880",
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"hom_count_reference_population": 1,
"allele_count_reference_population": 1668,
"gnomad_exomes_af": 0.00107535,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1718369722366333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.1855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.444,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001242828.2",
"gene_symbol": "ELOVL5",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.779A>G",
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}
],
"clinvar_disease": "Spinocerebellar ataxia type 38,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not specified|not provided|Spinocerebellar ataxia type 38",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}