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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: 1-48229154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48229154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 48229154,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001135181.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "ENST00000236495.9",
"protein_id": "ENSP00000236495.5",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 706,
"cds_start": 391,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236495.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "ENST00000533824.5",
"protein_id": "ENSP00000431900.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 702,
"cds_start": 391,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533824.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.340-141G>A",
"hgvs_p": null,
"transcript": "NM_001011547.3",
"protein_id": "NP_001011547.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438567.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011547.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.340-141G>A",
"hgvs_p": null,
"transcript": "ENST00000438567.7",
"protein_id": "ENSP00000401730.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011547.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438567.7"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "n.340-141G>A",
"hgvs_p": null,
"transcript": "ENST00000425816.5",
"protein_id": "ENSP00000404982.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000425816.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "NM_001135181.2",
"protein_id": "NP_001128653.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 706,
"cds_start": 391,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135181.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Gly124Arg",
"transcript": "ENST00000906153.1",
"protein_id": "ENSP00000576212.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 699,
"cds_start": 370,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906153.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "ENST00000906154.1",
"protein_id": "ENSP00000576213.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 695,
"cds_start": 391,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906154.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_047448583.1",
"protein_id": "XP_047304539.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 745,
"cds_start": 391,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448583.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_011540924.3",
"protein_id": "XP_011539226.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 719,
"cds_start": 391,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540924.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_011540925.3",
"protein_id": "XP_011539227.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 680,
"cds_start": 391,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540925.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_047448585.1",
"protein_id": "XP_047304541.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 680,
"cds_start": 391,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448585.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33Gln",
"transcript": "XM_047448593.1",
"protein_id": "XP_047304549.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 625,
"cds_start": 98,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448593.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_047448596.1",
"protein_id": "XP_047304552.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 616,
"cds_start": 391,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448596.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33Gln",
"transcript": "XM_011540927.2",
"protein_id": "XP_011539229.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 586,
"cds_start": 98,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540927.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg",
"transcript": "XM_011540929.3",
"protein_id": "XP_011539231.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 466,
"cds_start": 391,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540929.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "c.340-141G>A",
"hgvs_p": null,
"transcript": "XM_047448592.1",
"protein_id": "XP_047304548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "n.569G>A",
"hgvs_p": null,
"transcript": "ENST00000493837.6",
"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": "retained_intron",
"feature": "ENST00000493837.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "n.75G>A",
"hgvs_p": null,
"transcript": "ENST00000527929.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000527929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272491",
"gene_hgnc_id": null,
"hgvs_c": "n.408C>T",
"hgvs_p": null,
"transcript": "ENST00000606809.1",
"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": "pseudogene",
"feature": "ENST00000606809.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"hgvs_c": "n.337-141G>A",
"hgvs_p": null,
"transcript": "ENST00000441260.2",
"protein_id": "ENSP00000399991.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441260.2"
}
],
"gene_symbol": "SLC5A9",
"gene_hgnc_id": 22146,
"dbsnp": "rs1322301598",
"frequency_reference_population": 0.000003098331,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273666,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1132822036743164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.1192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.011,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001135181.2",
"gene_symbol": "SLC5A9",
"hgnc_id": 22146,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Gly131Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000606809.1",
"gene_symbol": "ENSG00000272491",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.408C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}