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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: 17-7559238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7559238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7559238,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338784.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "NM_003808.4",
"protein_id": "NP_003799.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 250,
"cds_start": 199,
"cds_end": null,
"cds_length": 753,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": "ENST00000338784.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000338784.9",
"protein_id": "ENSP00000343505.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 250,
"cds_start": 199,
"cds_end": null,
"cds_length": 753,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": "NM_003808.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000396545.4",
"protein_id": "ENSP00000379794.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 247,
"cds_start": 199,
"cds_end": null,
"cds_length": 744,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000349228.8",
"protein_id": "ENSP00000314455.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 234,
"cds_start": 199,
"cds_end": null,
"cds_length": 705,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000380535.8",
"protein_id": "ENSP00000369908.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 223,
"cds_start": 199,
"cds_end": null,
"cds_length": 672,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TNFSF12-TNFSF13",
"gene_hgnc_id": 33537,
"hgvs_c": "c.499-386G>A",
"hgvs_p": null,
"transcript": "ENST00000293826.4",
"protein_id": "ENSP00000293826.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "NM_172088.4",
"protein_id": "NP_742085.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 247,
"cds_start": 199,
"cds_end": null,
"cds_length": 744,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "NM_172087.3",
"protein_id": "NP_742084.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 234,
"cds_start": 199,
"cds_end": null,
"cds_length": 705,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "NM_001198622.2",
"protein_id": "NP_001185551.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 223,
"cds_start": 199,
"cds_end": null,
"cds_length": 672,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "NM_001198623.2",
"protein_id": "NP_001185552.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 222,
"cds_start": 199,
"cds_end": null,
"cds_length": 669,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000625791.2",
"protein_id": "ENSP00000486052.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 222,
"cds_start": 199,
"cds_end": null,
"cds_length": 669,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Gly50Arg",
"transcript": "NM_001198624.2",
"protein_id": "NP_001185553.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 205,
"cds_start": 148,
"cds_end": null,
"cds_length": 618,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000396542.5",
"protein_id": "ENSP00000379792.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 205,
"cds_start": 148,
"cds_end": null,
"cds_length": 618,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000436057.5",
"protein_id": "ENSP00000410094.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 157,
"cds_start": 148,
"cds_end": null,
"cds_length": 476,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000438470.5",
"protein_id": "ENSP00000390771.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 149,
"cds_start": 148,
"cds_end": null,
"cds_length": 450,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "n.489G>A",
"hgvs_p": null,
"transcript": "NR_073490.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TNFSF12-TNFSF13",
"gene_hgnc_id": 33537,
"hgvs_c": "c.499-386G>A",
"hgvs_p": null,
"transcript": "NM_172089.4",
"protein_id": "NP_742086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"hgvs_c": "c.-71-608G>A",
"hgvs_p": null,
"transcript": "ENST00000483039.5",
"protein_id": "ENSP00000464998.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 959,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276384",
"gene_hgnc_id": null,
"hgvs_c": "n.192+451C>T",
"hgvs_p": null,
"transcript": "ENST00000610459.2",
"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": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNFSF13",
"gene_hgnc_id": 11928,
"dbsnp": "rs11552708",
"frequency_reference_population": 0.12485789,
"hom_count_reference_population": 14667,
"allele_count_reference_population": 200979,
"gnomad_exomes_af": 0.125867,
"gnomad_genomes_af": 0.115196,
"gnomad_exomes_ac": 183442,
"gnomad_genomes_ac": 17537,
"gnomad_exomes_homalt": 13435,
"gnomad_genomes_homalt": 1232,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0029675662517547607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000338784.9",
"gene_symbol": "TNFSF13",
"hgnc_id": 11928,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000293826.4",
"gene_symbol": "TNFSF12-TNFSF13",
"hgnc_id": 33537,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.499-386G>A",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000610459.2",
"gene_symbol": "ENSG00000276384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.192+451C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}