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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: 3-38496513-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38496513&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOG",
"hgnc_id": 3347,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_005107.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 55,
"alphamissense_prediction": null,
"alphamissense_score": 0.0671,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.032272517681121826,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1107,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005107.4",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287675.10",
"protein_coding": true,
"protein_id": "NP_005098.2",
"strand": true,
"transcript": "NM_005107.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1107,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000287675.10",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005107.4",
"protein_coding": true,
"protein_id": "ENSP00000287675.5",
"strand": true,
"transcript": "ENST00000287675.10",
"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": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000412107.5",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "n.146C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400239.1",
"strand": true,
"transcript": "ENST00000412107.5",
"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": 1255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000431472.5",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "n.146C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394977.1",
"strand": true,
"transcript": "ENST00000431472.5",
"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": 1548,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000454803.6",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "n.146C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412756.2",
"strand": true,
"transcript": "ENST00000454803.6",
"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": 2075,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000457367.5",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "n.146C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402164.1",
"strand": true,
"transcript": "ENST00000457367.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1110,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000949412.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619471.1",
"strand": true,
"transcript": "ENST00000949412.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1062,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940164.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610223.1",
"strand": true,
"transcript": "ENST00000940164.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1008,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899406.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569465.1",
"strand": true,
"transcript": "ENST00000899406.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 174,
"cds_end": null,
"cds_length": 957,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001145464.2",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138936.1",
"strand": true,
"transcript": "NM_001145464.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 169,
"cds_end": null,
"cds_length": 957,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000422077.6",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404305.2",
"strand": true,
"transcript": "ENST00000422077.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 180,
"cds_end": null,
"cds_length": 957,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940163.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610222.1",
"strand": true,
"transcript": "ENST00000940163.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 186,
"aa_ref": "T",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": 33,
"cds_end": null,
"cds_length": 561,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000453767.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Thr11Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397124.1",
"strand": true,
"transcript": "ENST00000453767.1",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 56,
"aa_ref": "T",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 197,
"cdna_start": 172,
"cds_end": null,
"cds_length": 171,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000630638.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487559.1",
"strand": true,
"transcript": "ENST00000630638.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": null,
"cds_end": null,
"cds_length": 798,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449372.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-563C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305328.1",
"strand": true,
"transcript": "XM_047449372.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": null,
"cds_end": null,
"cds_length": 798,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449373.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-950C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305329.1",
"strand": true,
"transcript": "XM_047449373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": 687,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449374.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-2549C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305330.1",
"strand": true,
"transcript": "XM_047449374.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": null,
"cds_end": null,
"cds_length": 687,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449375.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-3173C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305331.1",
"strand": true,
"transcript": "XM_047449375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": null,
"cds_end": null,
"cds_length": 687,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449376.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-2774C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305332.1",
"strand": true,
"transcript": "XM_047449376.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": null,
"cds_end": null,
"cds_length": 687,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449377.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-2615C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305333.1",
"strand": true,
"transcript": "XM_047449377.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": null,
"cds_end": null,
"cds_length": 687,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449378.1",
"gene_hgnc_id": 3347,
"gene_symbol": "EXOG",
"hgvs_c": "c.-1451C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305334.1",
"strand": true,
"transcript": "XM_047449378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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