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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: 10-95621105-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95621105&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95621105,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002860.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "NM_002860.4",
"protein_id": "NP_002851.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371224.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002860.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000371224.7",
"protein_id": "ENSP00000360268.2",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002860.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371224.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "ENST00000371221.3",
"protein_id": "ENSP00000360265.3",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371221.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "NM_001323413.2",
"protein_id": "NP_001310342.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323413.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "NM_001323414.2",
"protein_id": "NP_001310343.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323414.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000879381.1",
"protein_id": "ENSP00000549440.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879381.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000879382.1",
"protein_id": "ENSP00000549441.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879382.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000931927.1",
"protein_id": "ENSP00000601986.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931927.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000931930.1",
"protein_id": "ENSP00000601989.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931930.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000931933.1",
"protein_id": "ENSP00000601992.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 795,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931933.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "NM_001017423.2",
"protein_id": "NP_001017423.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017423.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "NM_001323415.2",
"protein_id": "NP_001310344.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323415.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "ENST00000879374.1",
"protein_id": "ENSP00000549433.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879374.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "ENST00000879379.1",
"protein_id": "ENSP00000549438.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879379.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "ENST00000879380.1",
"protein_id": "ENSP00000549439.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 793,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879380.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Glu456Lys",
"transcript": "ENST00000879377.1",
"protein_id": "ENSP00000549436.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 786,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879377.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Glu453Lys",
"transcript": "ENST00000931931.1",
"protein_id": "ENSP00000601990.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 783,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931931.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Glu436Lys",
"transcript": "ENST00000879375.1",
"protein_id": "ENSP00000549434.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 766,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879375.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "NM_001323417.2",
"protein_id": "NP_001310346.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 760,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323417.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Glu430Lys",
"transcript": "ENST00000931934.1",
"protein_id": "ENSP00000601993.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 760,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931934.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000879378.1",
"protein_id": "ENSP00000549437.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 749,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879378.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH18A1",
"gene_hgnc_id": 9722,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"transcript": "ENST00000879376.1",
"protein_id": "ENSP00000549435.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 742,
"cds_start": 1234,
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],
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"dbsnp": "rs757876226",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
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"computational_score_selected": 0.6049379110336304,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2576,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.394,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_002860.4",
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys"
}
],
"clinvar_disease": " autosomal dominant 3,ALDH18A1-related de Barsy syndrome,Autosomal dominant spastic paraplegia type 9,Cutis laxa,Hereditary spastic paraplegia 9A,de Barsy syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|Hereditary spastic paraplegia 9A|ALDH18A1-related de Barsy syndrome|Autosomal dominant spastic paraplegia type 9;Cutis laxa, autosomal dominant 3;de Barsy syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}