← 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: 3-18349244-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=18349244&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 18349244,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338745.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_002971.6",
"protein_id": "NP_002962.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 7822,
"mane_select": "ENST00000338745.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000338745.11",
"protein_id": "ENSP00000341024.5",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 7822,
"mane_select": "NM_002971.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Leu772Phe",
"transcript": "ENST00000417717.6",
"protein_id": "ENSP00000399518.1",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000454909.6",
"protein_id": "ENSP00000399708.2",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Leu772Phe",
"transcript": "NM_001195470.3",
"protein_id": "NP_001182399.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 4051,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Leu772Phe",
"transcript": "NM_001322871.2",
"protein_id": "NP_001309800.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 6471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_001131010.4",
"protein_id": "NP_001124482.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 6281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_001322872.2",
"protein_id": "NP_001309801.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_001322873.2",
"protein_id": "NP_001309802.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_001322874.2",
"protein_id": "NP_001309803.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "NM_001322875.2",
"protein_id": "NP_001309804.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000415069.6",
"protein_id": "ENSP00000390529.2",
"transcript_support_level": 3,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000457005.6",
"protein_id": "ENSP00000398072.2",
"transcript_support_level": 4,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000700177.1",
"protein_id": "ENSP00000514845.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000700178.1",
"protein_id": "ENSP00000514846.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000700179.1",
"protein_id": "ENSP00000514847.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe",
"transcript": "ENST00000700180.1",
"protein_id": "ENSP00000514848.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2002C>T",
"hgvs_p": "p.Leu668Phe",
"transcript": "NM_001322876.2",
"protein_id": "NP_001309805.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 691,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Leu772Phe",
"transcript": "XM_011533988.4",
"protein_id": "XP_011532290.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 6377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Leu772Phe",
"transcript": "XM_011533989.3",
"protein_id": "XP_011532291.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 795,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 6280,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "n.3841C>T",
"hgvs_p": null,
"transcript": "ENST00000606296.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D5",
"gene_hgnc_id": 19166,
"hgvs_c": "n.211+95363C>T",
"hgvs_p": null,
"transcript": "ENST00000414318.2",
"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": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"dbsnp": "rs1329953084",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22095546126365662,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1447,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.133,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000338745.11",
"gene_symbol": "SATB1",
"hgnc_id": 10541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Leu740Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000414318.2",
"gene_symbol": "TBC1D5",
"hgnc_id": 19166,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.211+95363C>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
}