← Back to variant description
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: 12-45302070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45302070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45302070,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001204803.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "NM_001025356.3",
"protein_id": "NP_001020527.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 910,
"cds_start": 127,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320560.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025356.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000320560.13",
"protein_id": "ENSP00000320087.8",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 910,
"cds_start": 127,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025356.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320560.13"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "ENST00000423947.7",
"protein_id": "ENSP00000409126.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 931,
"cds_start": 190,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423947.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000425752.6",
"protein_id": "ENSP00000391417.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 929,
"cds_start": 127,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425752.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.73C>T",
"hgvs_p": "p.His25Tyr",
"transcript": "ENST00000441606.2",
"protein_id": "ENSP00000413137.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 892,
"cds_start": 73,
"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": "ENST00000441606.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000909151.1",
"protein_id": "ENSP00000579212.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 949,
"cds_start": 127,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909151.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr",
"transcript": "NM_001204803.2",
"protein_id": "NP_001191732.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 931,
"cds_start": 190,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204803.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "NM_001142679.2",
"protein_id": "NP_001136151.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 929,
"cds_start": 127,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142679.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.His32Tyr",
"transcript": "NM_001410973.1",
"protein_id": "NP_001397902.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 899,
"cds_start": 94,
"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": "NM_001410973.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.His32Tyr",
"transcript": "ENST00000679426.1",
"protein_id": "ENSP00000506600.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 899,
"cds_start": 94,
"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": "ENST00000679426.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.73C>T",
"hgvs_p": "p.His25Tyr",
"transcript": "NM_001142678.2",
"protein_id": "NP_001136150.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 892,
"cds_start": 73,
"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": "NM_001142678.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000968804.1",
"protein_id": "ENSP00000638863.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 884,
"cds_start": 127,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968804.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.His43Tyr",
"transcript": "ENST00000681156.1",
"protein_id": "ENSP00000506069.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 854,
"cds_start": 127,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681156.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.-267-29225C>T",
"hgvs_p": null,
"transcript": "ENST00000681817.1",
"protein_id": "ENSP00000506683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": null,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681817.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.-267-29225C>T",
"hgvs_p": null,
"transcript": "ENST00000680498.1",
"protein_id": "ENSP00000506613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": null,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680498.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.52-29225C>T",
"hgvs_p": null,
"transcript": "XM_005268707.5",
"protein_id": "XP_005268764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": null,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268707.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000550630.5",
"protein_id": "ENSP00000449423.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000550630.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.127C>T",
"hgvs_p": null,
"transcript": "ENST00000679761.1",
"protein_id": "ENSP00000505361.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.127C>T",
"hgvs_p": null,
"transcript": "ENST00000680201.1",
"protein_id": "ENSP00000506222.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680201.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.127C>T",
"hgvs_p": null,
"transcript": "ENST00000680371.1",
"protein_id": "ENSP00000506392.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000550630.5",
"protein_id": "ENSP00000449423.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000550630.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.406-29225C>T",
"hgvs_p": null,
"transcript": "ENST00000426898.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000426898.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293678",
"gene_hgnc_id": null,
"hgvs_c": "n.163-5271G>A",
"hgvs_p": null,
"transcript": "ENST00000828967.1",
"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": "ENST00000828967.1"
}
],
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"dbsnp": "rs748511778",
"frequency_reference_population": 0.0000082098995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082099,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05419585108757019,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.809,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001204803.2",
"gene_symbol": "ANO6",
"hgnc_id": 25240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190C>T",
"hgvs_p": "p.His64Tyr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000828967.1",
"gene_symbol": "ENSG00000293678",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.163-5271G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}