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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: 5-139382020-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139382020&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 139382020,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152685.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "NM_005847.5",
"protein_id": "NP_005838.3",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 598,
"cds_start": 180,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348729.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005847.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "ENST00000348729.8",
"protein_id": "ENSP00000302701.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 598,
"cds_start": 180,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005847.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348729.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "ENST00000353963.7",
"protein_id": "ENSP00000302851.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 602,
"cds_start": 180,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353963.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "NM_152685.4",
"protein_id": "NP_689898.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 602,
"cds_start": 180,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152685.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "ENST00000882127.1",
"protein_id": "ENSP00000552186.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 598,
"cds_start": 180,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882127.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "ENST00000882128.1",
"protein_id": "ENSP00000552187.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 598,
"cds_start": 180,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882128.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "ENST00000882129.1",
"protein_id": "ENSP00000552188.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 501,
"cds_start": 180,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882129.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Ile134Met",
"transcript": "ENST00000508270.1",
"protein_id": "ENSP00000427271.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 168,
"cds_start": 402,
"cds_end": null,
"cds_length": 509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508270.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_005272148.4",
"protein_id": "XP_005272205.4",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 737,
"cds_start": 585,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272148.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_011543765.3",
"protein_id": "XP_011542067.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 737,
"cds_start": 585,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543765.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_047417955.1",
"protein_id": "XP_047273911.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 737,
"cds_start": 585,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417955.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_005272149.5",
"protein_id": "XP_005272206.4",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 733,
"cds_start": 585,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272149.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_006714741.3",
"protein_id": "XP_006714804.3",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 705,
"cds_start": 585,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714741.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_047417956.1",
"protein_id": "XP_047273912.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 701,
"cds_start": 585,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417956.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Ile152Met",
"transcript": "XM_047417957.1",
"protein_id": "XP_047273913.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 694,
"cds_start": 456,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417957.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_011543766.2",
"protein_id": "XP_011542068.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 664,
"cds_start": 585,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543766.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Ile195Met",
"transcript": "XM_011543767.2",
"protein_id": "XP_011542069.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 632,
"cds_start": 585,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543767.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met",
"transcript": "XM_047417958.1",
"protein_id": "XP_047273914.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 497,
"cds_start": 180,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417958.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "n.394C>G",
"hgvs_p": null,
"transcript": "ENST00000502863.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000502863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"hgvs_c": "n.228C>G",
"hgvs_p": null,
"transcript": "ENST00000503919.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000503919.1"
}
],
"gene_symbol": "SLC23A1",
"gene_hgnc_id": 10974,
"dbsnp": "rs6886922",
"frequency_reference_population": 6.8645204e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86452e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8025398254394531,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.2309,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.511,
"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": 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_152685.4",
"gene_symbol": "SLC23A1",
"hgnc_id": 10974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Ile60Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}