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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: 8-108248678-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=108248678&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 108248678,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000521440.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-294C>G",
"hgvs_p": null,
"transcript": "ENST00000521440.6",
"protein_id": "ENSP00000430152.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521440.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "NM_001568.3",
"protein_id": "NP_001559.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 445,
"cds_start": 25,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220849.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001568.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000220849.10",
"protein_id": "ENSP00000220849.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 445,
"cds_start": 25,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001568.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220849.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000518442.5",
"protein_id": "ENSP00000504091.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 172,
"cds_start": 25,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518442.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-294C>G",
"hgvs_p": null,
"transcript": "ENST00000521440.6",
"protein_id": "ENSP00000430152.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521440.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-294C>G",
"hgvs_p": null,
"transcript": "ENST00000518345.2",
"protein_id": "ENSP00000430678.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"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": "ENST00000518345.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "ENST00000519030.6",
"protein_id": "ENSP00000428796.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519030.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-449C>G",
"hgvs_p": null,
"transcript": "ENST00000678937.1",
"protein_id": "ENSP00000503965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-76C>G",
"hgvs_p": null,
"transcript": "ENST00000678773.1",
"protein_id": "ENSP00000504386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-88C>G",
"hgvs_p": null,
"transcript": "ENST00000522352.6",
"protein_id": "ENSP00000428170.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522352.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "ENST00000676548.1",
"protein_id": "ENSP00000504326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676548.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000678042.1",
"protein_id": "ENSP00000503596.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 507,
"cds_start": 25,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678042.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000677674.1",
"protein_id": "ENSP00000503434.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 472,
"cds_start": 25,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677674.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000678901.1",
"protein_id": "ENSP00000502918.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 452,
"cds_start": 25,
"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": "ENST00000678901.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000676698.1",
"protein_id": "ENSP00000503133.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 446,
"cds_start": 25,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676698.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000677272.1",
"protein_id": "ENSP00000504529.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 416,
"cds_start": 25,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677272.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000678243.1",
"protein_id": "ENSP00000503845.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 339,
"cds_start": 25,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678243.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000521297.2",
"protein_id": "ENSP00000429968.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 332,
"cds_start": 25,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521297.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000519627.2",
"protein_id": "ENSP00000430839.2",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 318,
"cds_start": 25,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519627.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000677447.1",
"protein_id": "ENSP00000504306.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 172,
"cds_start": 25,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677447.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Arg9Gly",
"transcript": "ENST00000921171.1",
"protein_id": "ENSP00000591230.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 42,
"cds_start": 25,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF3E",
"gene_hgnc_id": 3277,
"hgvs_c": "c.-294C>G",
"hgvs_p": null,
"transcript": "ENST00000518345.2",
"protein_id": "ENSP00000430678.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.7026874423027039,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.3916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.727,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521440.6",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}