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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: 3-126105912-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126105912&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 126105912,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270364.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "NM_012190.4",
"protein_id": "NP_036322.2",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393434.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012190.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000393434.7",
"protein_id": "ENSP00000377083.3",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393434.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Val833Leu",
"transcript": "ENST00000273450.7",
"protein_id": "ENSP00000273450.3",
"transcript_support_level": 1,
"aa_start": 833,
"aa_end": null,
"aa_length": 912,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273450.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.*698G>T",
"hgvs_p": null,
"transcript": "ENST00000393431.6",
"protein_id": "ENSP00000377081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393431.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Val833Leu",
"transcript": "NM_001270364.2",
"protein_id": "NP_001257293.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 912,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270364.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2488G>T",
"hgvs_p": "p.Val830Leu",
"transcript": "ENST00000900792.1",
"protein_id": "ENSP00000570851.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 909,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900792.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2479G>T",
"hgvs_p": "p.Val827Leu",
"transcript": "ENST00000900786.1",
"protein_id": "ENSP00000570845.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 906,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900786.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000472186.5",
"protein_id": "ENSP00000420293.1",
"transcript_support_level": 5,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472186.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000900789.1",
"protein_id": "ENSP00000570848.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900789.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000900793.1",
"protein_id": "ENSP00000570852.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900793.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000961075.1",
"protein_id": "ENSP00000631134.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961075.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000961077.1",
"protein_id": "ENSP00000631136.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961077.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000961081.1",
"protein_id": "ENSP00000631140.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961081.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000961087.1",
"protein_id": "ENSP00000631146.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 902,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961087.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2467G>T",
"hgvs_p": "p.Val823Leu",
"transcript": "ENST00000961078.1",
"protein_id": "ENSP00000631137.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 901,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961078.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2461G>T",
"hgvs_p": "p.Val821Leu",
"transcript": "ENST00000900783.1",
"protein_id": "ENSP00000570842.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 900,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900783.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2458G>T",
"hgvs_p": "p.Val820Leu",
"transcript": "ENST00000961085.1",
"protein_id": "ENSP00000631144.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 899,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961085.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2440G>T",
"hgvs_p": "p.Val814Leu",
"transcript": "ENST00000900785.1",
"protein_id": "ENSP00000570844.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 893,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900785.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2437G>T",
"hgvs_p": "p.Val813Leu",
"transcript": "ENST00000961079.1",
"protein_id": "ENSP00000631138.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 892,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961079.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2422G>T",
"hgvs_p": "p.Val808Leu",
"transcript": "ENST00000900787.1",
"protein_id": "ENSP00000570846.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 887,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900787.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2422G>T",
"hgvs_p": "p.Val808Leu",
"transcript": "ENST00000961086.1",
"protein_id": "ENSP00000631145.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 887,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961086.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2404G>T",
"hgvs_p": "p.Val802Leu",
"transcript": "ENST00000900791.1",
"protein_id": "ENSP00000570850.1",
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{
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{
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
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"acmg_by_gene": [
{
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"PP3"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}