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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: 1-37976886-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37976886&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 37976886,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006802.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg",
"transcript": "NM_006802.4",
"protein_id": "NP_006793.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 501,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373019.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006802.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg",
"transcript": "ENST00000373019.5",
"protein_id": "ENSP00000362110.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 501,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373019.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg",
"transcript": "ENST00000896916.1",
"protein_id": "ENSP00000566975.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 534,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896916.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Gly353Arg",
"transcript": "ENST00000963486.1",
"protein_id": "ENSP00000633545.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 519,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963486.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg",
"transcript": "ENST00000963485.1",
"protein_id": "ENSP00000633544.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 509,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963485.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1000G>C",
"hgvs_p": "p.Gly334Arg",
"transcript": "ENST00000896914.1",
"protein_id": "ENSP00000566973.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896914.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1000G>C",
"hgvs_p": "p.Gly334Arg",
"transcript": "ENST00000931599.1",
"protein_id": "ENSP00000601658.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931599.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg",
"transcript": "ENST00000896913.1",
"protein_id": "ENSP00000566972.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 499,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896913.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.955G>C",
"hgvs_p": "p.Gly319Arg",
"transcript": "ENST00000896915.1",
"protein_id": "ENSP00000566974.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 485,
"cds_start": 955,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896915.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000931598.1",
"protein_id": "ENSP00000601657.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 465,
"cds_start": 895,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931598.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.844G>C",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_001320830.2",
"protein_id": "NP_001307759.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 448,
"cds_start": 844,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320830.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Gly281Arg",
"transcript": "ENST00000931603.1",
"protein_id": "ENSP00000601662.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 447,
"cds_start": 841,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931603.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Gly280Arg",
"transcript": "ENST00000931600.1",
"protein_id": "ENSP00000601659.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 446,
"cds_start": 838,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Gly266Arg",
"transcript": "ENST00000931601.1",
"protein_id": "ENSP00000601660.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 432,
"cds_start": 796,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931601.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.759+2579G>C",
"hgvs_p": null,
"transcript": "ENST00000896912.1",
"protein_id": "ENSP00000566971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896912.1"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.690+3700G>C",
"hgvs_p": null,
"transcript": "ENST00000931604.1",
"protein_id": "ENSP00000601663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931604.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.600+2579G>C",
"hgvs_p": null,
"transcript": "ENST00000931602.1",
"protein_id": "ENSP00000601661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931602.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.594+2579G>C",
"hgvs_p": null,
"transcript": "ENST00000963484.1",
"protein_id": "ENSP00000633543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963484.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.759+2579G>C",
"hgvs_p": null,
"transcript": "ENST00000931605.1",
"protein_id": "ENSP00000601664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "n.548G>C",
"hgvs_p": null,
"transcript": "ENST00000460925.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460925.1"
}
],
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"dbsnp": "rs1475746388",
"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": 0.6694936156272888,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7739999890327454,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8249,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.281,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.957213694176391,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006802.4",
"gene_symbol": "SF3A3",
"hgnc_id": 10767,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Gly335Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}