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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: 18-26861251-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=26861251&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 26861251,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000383168.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "NM_001650.7",
"protein_id": "NP_001641.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 323,
"cds_start": 492,
"cds_end": null,
"cds_length": 972,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": "ENST00000383168.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "ENST00000383168.9",
"protein_id": "ENSP00000372654.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 323,
"cds_start": 492,
"cds_end": null,
"cds_length": 972,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": "NM_001650.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "ENST00000581374.5",
"protein_id": "ENSP00000462597.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 301,
"cds_start": 426,
"cds_end": null,
"cds_length": 906,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "NM_001317384.3",
"protein_id": "NP_001304313.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 352,
"cds_start": 492,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "ENST00000672981.2",
"protein_id": "ENSP00000500598.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 352,
"cds_start": 492,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "NM_001364287.1",
"protein_id": "NP_001351216.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 330,
"cds_start": 426,
"cds_end": null,
"cds_length": 993,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "NM_001364289.2",
"protein_id": "NP_001351218.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 330,
"cds_start": 426,
"cds_end": null,
"cds_length": 993,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "ENST00000672188.1",
"protein_id": "ENSP00000500720.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 323,
"cds_start": 492,
"cds_end": null,
"cds_length": 972,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "NM_001364286.1",
"protein_id": "NP_001351215.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 301,
"cds_start": 426,
"cds_end": null,
"cds_length": 906,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "NM_004028.5",
"protein_id": "NP_004019.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 301,
"cds_start": 426,
"cds_end": null,
"cds_length": 906,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "ENST00000440832.7",
"protein_id": "ENSP00000393121.3",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 301,
"cds_start": 426,
"cds_end": null,
"cds_length": 906,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "NM_001317387.3",
"protein_id": "NP_001304316.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 296,
"cds_start": 492,
"cds_end": null,
"cds_length": 891,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu",
"transcript": "ENST00000675739.1",
"protein_id": "ENSP00000502364.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 296,
"cds_start": 492,
"cds_end": null,
"cds_length": 891,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000578776.1",
"protein_id": "ENSP00000462075.1",
"transcript_support_level": 4,
"aa_start": 123,
"aa_end": null,
"aa_length": 184,
"cds_start": 369,
"cds_end": null,
"cds_length": 557,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "c.471G>A",
"hgvs_p": "p.Leu157Leu",
"transcript": "XM_011525942.4",
"protein_id": "XP_011524244.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 316,
"cds_start": 471,
"cds_end": null,
"cds_length": 951,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 7859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.204G>A",
"hgvs_p": null,
"transcript": "ENST00000583022.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.270G>A",
"hgvs_p": null,
"transcript": "ENST00000584088.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.93-63509C>T",
"hgvs_p": null,
"transcript": "ENST00000579964.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.306-63509C>T",
"hgvs_p": null,
"transcript": "ENST00000582605.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.194-63509C>T",
"hgvs_p": null,
"transcript": "ENST00000627963.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP4-AS1",
"gene_hgnc_id": 26399,
"hgvs_c": "n.823-63509C>T",
"hgvs_p": null,
"transcript": "ENST00000628174.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"hgvs_c": "n.*191G>A",
"hgvs_p": null,
"transcript": "ENST00000383170.3",
"protein_id": "ENSP00000372656.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AQP4",
"gene_hgnc_id": 637,
"dbsnp": "rs1839318",
"frequency_reference_population": 0.023348117,
"hom_count_reference_population": 799,
"allele_count_reference_population": 37684,
"gnomad_exomes_af": 0.0232133,
"gnomad_genomes_af": 0.0246422,
"gnomad_exomes_ac": 33931,
"gnomad_genomes_ac": 3753,
"gnomad_exomes_homalt": 730,
"gnomad_genomes_homalt": 69,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000383168.9",
"gene_symbol": "AQP4",
"hgnc_id": 637,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.492G>A",
"hgvs_p": "p.Leu164Leu"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000582605.5",
"gene_symbol": "AQP4-AS1",
"hgnc_id": 26399,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.306-63509C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}