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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: 20-4869993-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=4869993&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 4869993,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005116.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "NM_005116.6",
"protein_id": "NP_005107.4",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338244.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005116.6"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000338244.6",
"protein_id": "ENSP00000344322.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005116.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338244.6"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000379333.5",
"protein_id": "ENSP00000368637.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379333.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "n.1529T>A",
"hgvs_p": null,
"transcript": "ENST00000468355.5",
"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": "pseudogene",
"feature": "ENST00000468355.5"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1277T>A",
"hgvs_p": "p.Val426Asp",
"transcript": "ENST00000877970.1",
"protein_id": "ENSP00000548029.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 688,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877970.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000877967.1",
"protein_id": "ENSP00000548026.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 684,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877967.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000877974.1",
"protein_id": "ENSP00000548033.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 684,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877974.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Val411Asp",
"transcript": "ENST00000877972.1",
"protein_id": "ENSP00000548031.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 673,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877972.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "NM_203327.2",
"protein_id": "NP_976072.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203327.2"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000877968.1",
"protein_id": "ENSP00000548027.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877968.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000877969.1",
"protein_id": "ENSP00000548028.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877969.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000877971.1",
"protein_id": "ENSP00000548030.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877971.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000922621.1",
"protein_id": "ENSP00000592680.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922621.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000949265.1",
"protein_id": "ENSP00000619324.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949265.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000949266.1",
"protein_id": "ENSP00000619325.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949266.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000949267.1",
"protein_id": "ENSP00000619326.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949267.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000949268.1",
"protein_id": "ENSP00000619327.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 650,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949268.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1064T>A",
"hgvs_p": "p.Val355Asp",
"transcript": "ENST00000877973.1",
"protein_id": "ENSP00000548032.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 617,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877973.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp",
"transcript": "ENST00000922622.1",
"protein_id": "ENSP00000592681.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 595,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922622.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.821T>A",
"hgvs_p": "p.Val274Asp",
"transcript": "ENST00000922620.1",
"protein_id": "ENSP00000592679.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 570,
"cds_start": 821,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922620.1"
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"hgvs_c": "c.431T>A",
"hgvs_p": "p.Val144Asp",
"transcript": "ENST00000423430.1",
"protein_id": "ENSP00000396364.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 302,
"cds_start": 431,
"cds_end": null,
"cds_length": 910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423430.1"
}
],
"gene_symbol": "SLC23A2",
"gene_hgnc_id": 10973,
"dbsnp": "rs1218462189",
"frequency_reference_population": 0.0000012393493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84161e-7,
"gnomad_genomes_af": 0.00000657436,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9079238176345825,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.65,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005116.6",
"gene_symbol": "SLC23A2",
"hgnc_id": 10973,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1163T>A",
"hgvs_p": "p.Val388Asp"
}
],
"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
}