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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: 20-35284183-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35284183&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF6",
"hgnc_id": 6159,
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002212.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "FAM83C-AS1",
"hgnc_id": 16113,
"hgvs_c": "n.-116C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000429167.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.7618,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5866316556930542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 238,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002212.4",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374450.8",
"protein_coding": true,
"protein_id": "NP_002203.1",
"strand": false,
"transcript": "NM_002212.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 238,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374450.8",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002212.4",
"protein_coding": true,
"protein_id": "ENSP00000363574.3",
"strand": false,
"transcript": "ENST00000374450.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1252,
"cdna_start": 414,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000374436.7",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363559.3",
"strand": false,
"transcript": "ENST00000374436.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000447927.6",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411450.2",
"strand": false,
"transcript": "ENST00000447927.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 212,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001267810.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254739.1",
"strand": false,
"transcript": "NM_001267810.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 416,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_181468.2",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852133.1",
"strand": false,
"transcript": "NM_181468.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 212,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675032.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502429.1",
"strand": false,
"transcript": "ENST00000675032.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 205,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866866.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536925.1",
"strand": false,
"transcript": "ENST00000866866.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1053,
"cdna_start": 224,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866867.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536926.1",
"strand": false,
"transcript": "ENST00000866867.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1089,
"cdna_start": 258,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914127.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584186.1",
"strand": false,
"transcript": "ENST00000914127.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": 249,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914130.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584189.1",
"strand": false,
"transcript": "ENST00000914130.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1062,
"cdna_start": 237,
"cds_end": null,
"cds_length": 738,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955583.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625642.1",
"strand": false,
"transcript": "ENST00000955583.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 244,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 263,
"cds_end": null,
"cds_length": 735,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914126.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584185.1",
"strand": false,
"transcript": "ENST00000914126.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 244,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 226,
"cds_end": null,
"cds_length": 735,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914132.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584191.1",
"strand": false,
"transcript": "ENST00000914132.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 244,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": 252,
"cds_end": null,
"cds_length": 735,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955584.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625643.1",
"strand": false,
"transcript": "ENST00000955584.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 226,
"aa_ref": "C",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 357,
"cds_end": null,
"cds_length": 681,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_181466.3",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Cys102Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852131.1",
"strand": false,
"transcript": "NM_181466.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 226,
"aa_ref": "C",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 355,
"cds_end": null,
"cds_length": 681,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000374443.7",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Cys102Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363566.3",
"strand": false,
"transcript": "ENST00000374443.7",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 226,
"aa_ref": "C",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 402,
"cds_end": null,
"cds_length": 681,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000866868.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Cys102Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536927.1",
"strand": false,
"transcript": "ENST00000866868.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 224,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 266,
"cds_end": null,
"cds_length": 675,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914128.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584187.1",
"strand": false,
"transcript": "ENST00000914128.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 188,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 228,
"cds_end": null,
"cds_length": 567,
"cds_start": 186,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866865.1",
"gene_hgnc_id": 6159,
"gene_symbol": "EIF6",
"hgvs_c": "c.186G>A",
"hgvs_p": "p.Met62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536924.1",
"strand": false,
"transcript": "ENST00000866865.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 186,
"aa_ref": "M",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": 191,
"cds_end": null,
"cds_length": 561,
"cds_start": 186,
"consequences": [
"missense_variant"
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