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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: 6-4068770-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4068770&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 4068770,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173563.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Ile485Val",
"transcript": "NM_173563.3",
"protein_id": "NP_775834.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 508,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274673.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173563.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Ile485Val",
"transcript": "ENST00000274673.8",
"protein_id": "ENSP00000274673.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 508,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173563.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274673.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Ile619Val",
"transcript": "ENST00000639338.1",
"protein_id": "ENSP00000492773.1",
"transcript_support_level": 5,
"aa_start": 619,
"aa_end": null,
"aa_length": 642,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639338.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1513A>G",
"hgvs_p": "p.Ile505Val",
"transcript": "XM_017010480.3",
"protein_id": "XP_016865969.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 528,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010480.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Ile476Val",
"transcript": "XM_005248951.5",
"protein_id": "XP_005249008.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 499,
"cds_start": 1426,
"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": "XM_005248951.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Ile476Val",
"transcript": "XM_017010481.2",
"protein_id": "XP_016865970.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 499,
"cds_start": 1426,
"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": "XM_017010481.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1423A>G",
"hgvs_p": "p.Ile475Val",
"transcript": "XM_011514415.2",
"protein_id": "XP_011512717.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 498,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514415.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "XM_011514416.3",
"protein_id": "XP_011512718.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 495,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514416.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_011514417.3",
"protein_id": "XP_011512719.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 460,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514417.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "XM_006715025.4",
"protein_id": "XP_006715088.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 445,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715025.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "XM_006715026.4",
"protein_id": "XP_006715089.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 445,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715026.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "XM_011514414.4",
"protein_id": "XP_011512716.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 445,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514414.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "XM_017010482.2",
"protein_id": "XP_016865971.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 445,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010482.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ile422Val",
"transcript": "XM_047418385.1",
"protein_id": "XP_047274341.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 445,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "n.1862A>G",
"hgvs_p": null,
"transcript": "ENST00000380188.2",
"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": "ENST00000380188.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "n.391+4505A>G",
"hgvs_p": null,
"transcript": "ENST00000469157.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000469157.5"
}
],
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"dbsnp": "rs764997056",
"frequency_reference_population": 0.000003717684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000136832,
"gnomad_genomes_af": 0.0000262702,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0582425594329834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.316,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_173563.3",
"gene_symbol": "FAM217A",
"hgnc_id": 21362,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Ile485Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}