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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: 12-45923075-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45923075&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45923075,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004719.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3986C>A",
"hgvs_p": "p.Thr1329Lys",
"transcript": "NM_004719.3",
"protein_id": "NP_004710.2",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4229,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": "ENST00000369367.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004719.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3986C>A",
"hgvs_p": "p.Thr1329Lys",
"transcript": "ENST00000369367.8",
"protein_id": "ENSP00000358374.3",
"transcript_support_level": 1,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4229,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": "NM_004719.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369367.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3410C>A",
"hgvs_p": "p.Thr1137Lys",
"transcript": "ENST00000549162.5",
"protein_id": "ENSP00000448864.1",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3410,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549162.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3041C>A",
"hgvs_p": "p.Thr1014Lys",
"transcript": "ENST00000465950.5",
"protein_id": "ENSP00000449812.1",
"transcript_support_level": 1,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3041,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465950.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1505C>A",
"hgvs_p": "p.Thr502Lys",
"transcript": "ENST00000943613.1",
"protein_id": "ENSP00000613672.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 636,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943613.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Thr492Lys",
"transcript": "ENST00000943612.1",
"protein_id": "ENSP00000613671.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 626,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943612.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Thr492Lys",
"transcript": "ENST00000943614.1",
"protein_id": "ENSP00000613673.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 610,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943614.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1268C>A",
"hgvs_p": "p.Thr423Lys",
"transcript": "ENST00000884498.1",
"protein_id": "ENSP00000554557.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 557,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884498.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Thr47Lys",
"transcript": "ENST00000550893.2",
"protein_id": "ENSP00000477742.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 151,
"cds_start": 140,
"cds_end": null,
"cds_length": 456,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550893.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4178C>A",
"hgvs_p": "p.Thr1393Lys",
"transcript": "XM_005269230.3",
"protein_id": "XP_005269287.3",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 7505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269230.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4178C>A",
"hgvs_p": "p.Thr1393Lys",
"transcript": "XM_047429878.1",
"protein_id": "XP_047285834.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1490,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429878.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4034C>A",
"hgvs_p": "p.Thr1345Lys",
"transcript": "XM_011538984.3",
"protein_id": "XP_011537286.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1479,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 5774,
"cdna_end": null,
"cdna_length": 9097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538984.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3986C>A",
"hgvs_p": "p.Thr1329Lys",
"transcript": "XM_047429879.1",
"protein_id": "XP_047285835.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4297,
"cdna_end": null,
"cdna_length": 7620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429879.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4034C>A",
"hgvs_p": "p.Thr1345Lys",
"transcript": "XM_047429881.1",
"protein_id": "XP_047285837.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 5774,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429881.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3986C>A",
"hgvs_p": "p.Thr1329Lys",
"transcript": "XM_047429882.1",
"protein_id": "XP_047285838.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4297,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429882.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3830C>A",
"hgvs_p": "p.Thr1277Lys",
"transcript": "XM_024449275.2",
"protein_id": "XP_024305043.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449275.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3410C>A",
"hgvs_p": "p.Thr1137Lys",
"transcript": "XM_047429884.1",
"protein_id": "XP_047285840.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3410,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 6205,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4099-493C>A",
"hgvs_p": null,
"transcript": "XM_047429880.1",
"protein_id": "XP_047285836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": null,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.4099-493C>A",
"hgvs_p": null,
"transcript": "XM_047429883.1",
"protein_id": "XP_047285839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429883.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "n.26C>A",
"hgvs_p": null,
"transcript": "ENST00000547654.5",
"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": 416,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000547654.5"
},
{
"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": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "n.141C>A",
"hgvs_p": null,
"transcript": "ENST00000550629.1",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550629.1"
}
],
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"dbsnp": "rs202135977",
"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": 0.119466632604599,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.069,
"phylop100way_prediction": "Benign",
"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": "NM_004719.3",
"gene_symbol": "SCAF11",
"hgnc_id": 10784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3986C>A",
"hgvs_p": "p.Thr1329Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}