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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: 22-20086301-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20086301&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20086301,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022720.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "NM_022720.7",
"protein_id": "NP_073557.3",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351989.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022720.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000351989.8",
"protein_id": "ENSP00000263209.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022720.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351989.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000407755.2",
"protein_id": "ENSP00000384726.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 740,
"cds_start": 338,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407755.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "n.482A>G",
"hgvs_p": null,
"transcript": "ENST00000495826.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000495826.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868486.1",
"protein_id": "ENSP00000538545.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 806,
"cds_start": 338,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868486.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000457069.2",
"protein_id": "ENSP00000409625.2",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457069.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868483.1",
"protein_id": "ENSP00000538542.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868483.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868487.1",
"protein_id": "ENSP00000538546.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868487.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868488.1",
"protein_id": "ENSP00000538547.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868488.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868485.1",
"protein_id": "ENSP00000538544.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 772,
"cds_start": 338,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868485.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000954974.1",
"protein_id": "ENSP00000625033.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 772,
"cds_start": 338,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954974.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000868484.1",
"protein_id": "ENSP00000538543.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 765,
"cds_start": 338,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868484.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000927223.1",
"protein_id": "ENSP00000597282.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 758,
"cds_start": 338,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927223.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000954973.1",
"protein_id": "ENSP00000625032.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 757,
"cds_start": 338,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954973.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "NM_001190326.2",
"protein_id": "NP_001177255.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 740,
"cds_start": 338,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190326.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_047441418.1",
"protein_id": "XP_047297374.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441418.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_047441419.1",
"protein_id": "XP_047297375.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 773,
"cds_start": 338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.141+197A>G",
"hgvs_p": null,
"transcript": "ENST00000704820.1",
"protein_id": "ENSP00000516052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"hgvs_c": "c.-104-5134A>G",
"hgvs_p": null,
"transcript": "ENST00000704821.1",
"protein_id": "ENSP00000516053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1306",
"gene_hgnc_id": 35371,
"hgvs_c": "n.*159A>G",
"hgvs_p": null,
"transcript": "ENST00000408439.3",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000408439.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1306",
"gene_hgnc_id": 35371,
"hgvs_c": "n.*159A>G",
"hgvs_p": null,
"transcript": "NR_031706.1",
"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_031706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1306",
"gene_hgnc_id": 35371,
"hgvs_c": "n.*208A>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_3543",
"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": "miRNA",
"feature": "unassigned_transcript_3543"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1306",
"gene_hgnc_id": 35371,
"hgvs_c": "n.*172A>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_3544",
"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": "miRNA",
"feature": "unassigned_transcript_3544"
}
],
"gene_symbol": "DGCR8",
"gene_hgnc_id": 2847,
"dbsnp": "rs377706846",
"frequency_reference_population": 0.00005576457,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000595127,
"gnomad_genomes_af": 0.0000197296,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17093443870544434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.877,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022720.7",
"gene_symbol": "DGCR8",
"hgnc_id": 2847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_031706.1",
"gene_symbol": "MIR1306",
"hgnc_id": 35371,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*159A>G",
"hgvs_p": null
}
],
"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
}