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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: 6-137207028-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137207028&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "IFNGR1",
"hgnc_id": 5439,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_000416.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 174,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "6",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Disseminated atypical mycobacterial infection,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 193,
"cds_end": null,
"cds_length": 1470,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000416.3",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367739.9",
"protein_coding": true,
"protein_id": "NP_000407.1",
"strand": false,
"transcript": "NM_000416.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 193,
"cds_end": null,
"cds_length": 1470,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367739.9",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000416.3",
"protein_coding": true,
"protein_id": "ENSP00000356713.5",
"strand": false,
"transcript": "ENST00000367739.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 487,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 193,
"cds_end": null,
"cds_length": 1464,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957752.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627811.1",
"strand": false,
"transcript": "ENST00000957752.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1440,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363526.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ile35Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350455.1",
"strand": false,
"transcript": "NM_001363526.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1440,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000414770.6",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ile35Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394230.2",
"strand": false,
"transcript": "ENST00000414770.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1440,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646036.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ile35Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496387.1",
"strand": false,
"transcript": "ENST00000646036.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1440,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646898.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Ile35Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494069.1",
"strand": false,
"transcript": "ENST00000646898.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "I",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1413,
"cds_start": 78,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642390.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Ile26Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496468.1",
"strand": false,
"transcript": "ENST00000642390.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 470,
"aa_ref": "I",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 244,
"cds_end": null,
"cds_length": 1413,
"cds_start": 78,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645045.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Ile26Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494493.2",
"strand": false,
"transcript": "ENST00000645045.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 211,
"cds_end": null,
"cds_length": 1395,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911309.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581368.1",
"strand": false,
"transcript": "ENST00000911309.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1395,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957754.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627813.1",
"strand": false,
"transcript": "ENST00000957754.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 458,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1377,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957753.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627812.1",
"strand": false,
"transcript": "ENST00000957753.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 455,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 257,
"cds_end": null,
"cds_length": 1368,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000458076.6",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389249.2",
"strand": false,
"transcript": "ENST00000458076.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1347,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363527.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ile4Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350456.1",
"strand": false,
"transcript": "NM_001363527.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1347,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000644894.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ile4Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495272.1",
"strand": false,
"transcript": "ENST00000644894.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 79,
"cds_end": null,
"cds_length": 1347,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000645753.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ile4Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495103.1",
"strand": false,
"transcript": "ENST00000645753.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 95,
"cds_end": null,
"cds_length": 1347,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000647124.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ile4Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496549.1",
"strand": false,
"transcript": "ENST00000647124.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 448,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 83,
"cds_end": null,
"cds_length": 1347,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696693.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ile4Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512814.1",
"strand": false,
"transcript": "ENST00000696693.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 436,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1313,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696697.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.81C>T",
"hgvs_p": "p.Ile27Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512818.1",
"strand": false,
"transcript": "ENST00000696697.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 435,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1308,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696695.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Ile45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512816.1",
"strand": false,
"transcript": "ENST00000696695.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 257,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 193,
"cds_end": null,
"cds_length": 774,
"cds_start": 135,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696694.1",
"gene_hgnc_id": 5439,
"gene_symbol": "IFNGR1",
"hgvs_c": "c.135C>T",
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