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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: 1-25408840-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25408840&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25408840,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020485.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "NM_020485.8",
"protein_id": "NP_065231.4",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 417,
"cds_start": 178,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294413.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020485.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "ENST00000294413.13",
"protein_id": "ENSP00000294413.6",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 417,
"cds_start": 178,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020485.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294413.13"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "ENST00000413854.5",
"protein_id": "ENSP00000415417.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 372,
"cds_start": 178,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413854.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "ENST00000349438.8",
"protein_id": "ENSP00000334570.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 354,
"cds_start": 178,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349438.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "ENST00000340849.8",
"protein_id": "ENSP00000345084.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 267,
"cds_start": 178,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340849.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "ENST00000346452.8",
"protein_id": "ENSP00000344485.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 266,
"cds_start": 178,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346452.8"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "n.333C>A",
"hgvs_p": null,
"transcript": "ENST00000527187.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000527187.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.130C>A",
"hgvs_p": "p.Leu44Ile",
"transcript": "ENST00000349320.7",
"protein_id": "ENSP00000311185.4",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 401,
"cds_start": 130,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349320.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "NM_001330430.4",
"protein_id": "NP_001317359.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 372,
"cds_start": 178,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330430.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "NM_138618.6",
"protein_id": "NP_619524.5",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 354,
"cds_start": 178,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138618.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "NM_138617.5",
"protein_id": "NP_619523.3",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 267,
"cds_start": 178,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138617.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "NM_138616.5",
"protein_id": "NP_619522.3",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 266,
"cds_start": 178,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138616.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Leu95Ile",
"transcript": "XM_011541889.4",
"protein_id": "XP_011540191.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 452,
"cds_start": 283,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541889.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "XM_006710810.4",
"protein_id": "XP_006710873.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 425,
"cds_start": 178,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710810.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "XM_005245957.5",
"protein_id": "XP_005246014.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 396,
"cds_start": 178,
"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": "XM_005245957.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile",
"transcript": "XM_017002014.3",
"protein_id": "XP_016857503.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 378,
"cds_start": 178,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002014.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Ile",
"transcript": "XM_011541888.4",
"protein_id": "XP_011540190.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 377,
"cds_start": 58,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541888.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "c.10C>A",
"hgvs_p": "p.Leu4Ile",
"transcript": "XM_047427028.1",
"protein_id": "XP_047282984.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 361,
"cds_start": 10,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427028.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "n.284C>A",
"hgvs_p": null,
"transcript": "ENST00000495048.1",
"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": "ENST00000495048.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"hgvs_c": "n.149-6094C>A",
"hgvs_p": null,
"transcript": "ENST00000533771.1",
"protein_id": "ENSP00000435401.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533771.1"
}
],
"gene_symbol": "RHCE",
"gene_hgnc_id": 10008,
"dbsnp": "rs181860403",
"frequency_reference_population": 0.00008961439,
"hom_count_reference_population": 34,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000939122,
"gnomad_genomes_af": 0.0000489325,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1524854302406311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.694,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020485.8",
"gene_symbol": "RHCE",
"hgnc_id": 10008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.178C>A",
"hgvs_p": "p.Leu60Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}