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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: 3-126124406-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126124406&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 126124406,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001270364.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "NM_012190.4",
"protein_id": "NP_036322.2",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000393434.7",
"protein_id": "ENSP00000377083.3",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1876G>C",
"hgvs_p": "p.Ala626Pro",
"transcript": "ENST00000273450.7",
"protein_id": "ENSP00000273450.3",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 912,
"cds_start": 1876,
"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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.*177G>C",
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1876G>C",
"hgvs_p": "p.Ala626Pro",
"transcript": "NM_001270364.2",
"protein_id": "NP_001257293.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 912,
"cds_start": 1876,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1867G>C",
"hgvs_p": "p.Ala623Pro",
"transcript": "ENST00000900792.1",
"protein_id": "ENSP00000570851.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 909,
"cds_start": 1867,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000900786.1",
"protein_id": "ENSP00000570845.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 906,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000472186.5",
"protein_id": "ENSP00000420293.1",
"transcript_support_level": 5,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000900789.1",
"protein_id": "ENSP00000570848.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000900793.1",
"protein_id": "ENSP00000570852.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961075.1",
"protein_id": "ENSP00000631134.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961077.1",
"protein_id": "ENSP00000631136.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961081.1",
"protein_id": "ENSP00000631140.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961087.1",
"protein_id": "ENSP00000631146.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 902,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961078.1",
"protein_id": "ENSP00000631137.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 901,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1840G>C",
"hgvs_p": "p.Ala614Pro",
"transcript": "ENST00000900783.1",
"protein_id": "ENSP00000570842.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 900,
"cds_start": 1840,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1837G>C",
"hgvs_p": "p.Ala613Pro",
"transcript": "ENST00000961085.1",
"protein_id": "ENSP00000631144.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 899,
"cds_start": 1837,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000900785.1",
"protein_id": "ENSP00000570844.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 893,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1846G>C",
"hgvs_p": "p.Ala616Pro",
"transcript": "ENST00000961079.1",
"protein_id": "ENSP00000631138.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 892,
"cds_start": 1846,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "ENST00000900787.1",
"protein_id": "ENSP00000570846.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 887,
"cds_start": 1801,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1801G>C",
"hgvs_p": "p.Ala601Pro",
"transcript": "ENST00000961086.1",
"protein_id": "ENSP00000631145.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 887,
"cds_start": 1801,
"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": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.1783G>C",
"hgvs_p": "p.Ala595Pro",
"transcript": "ENST00000900791.1",
"protein_id": "ENSP00000570850.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 881,
"cds_start": 1783,
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"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_072979.2"
}
],
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"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": 0.962722659111023,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9897,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.685,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001270364.2",
"gene_symbol": "ALDH1L1",
"hgnc_id": 3978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1876G>C",
"hgvs_p": "p.Ala626Pro"
}
],
"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
}