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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: 1-20829186-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20829186&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF4G3",
"hgnc_id": 3298,
"hgvs_c": "c.4238T>C",
"hgvs_p": "p.Met1413Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001391907.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2138,
"alphamissense_prediction": null,
"alphamissense_score": 0.5191,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00941351056098938,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1641,
"aa_ref": "M",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 4779,
"cds_end": null,
"cds_length": 4926,
"cds_start": 4148,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001391906.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4148T>C",
"hgvs_p": "p.Met1383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000602326.6",
"protein_coding": true,
"protein_id": "NP_001378835.1",
"strand": false,
"transcript": "NM_001391906.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1641,
"aa_ref": "M",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 4779,
"cds_end": null,
"cds_length": 4926,
"cds_start": 4148,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000602326.6",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4148T>C",
"hgvs_p": "p.Met1383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001391906.1",
"protein_coding": true,
"protein_id": "ENSP00000473510.2",
"strand": false,
"transcript": "ENST00000602326.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "M",
"aa_start": 1363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5762,
"cdna_start": 4669,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4088,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000400422.6",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4088T>C",
"hgvs_p": "p.Met1363Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383274.2",
"strand": false,
"transcript": "ENST00000400422.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1895,
"aa_ref": "M",
"aa_start": 1637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5688,
"cds_start": 4910,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000693470.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4910T>C",
"hgvs_p": "p.Met1637Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509295.1",
"strand": false,
"transcript": "ENST00000693470.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1774,
"aa_ref": "M",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5325,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 5325,
"cds_start": 4547,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000634879.2",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4547T>C",
"hgvs_p": "p.Met1516Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489051.2",
"strand": false,
"transcript": "ENST00000634879.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "M",
"aa_start": 1489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6528,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5244,
"cds_start": 4466,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000685872.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4466T>C",
"hgvs_p": "p.Met1489Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509442.1",
"strand": false,
"transcript": "ENST00000685872.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1671,
"aa_ref": "M",
"aa_start": 1413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 4869,
"cds_end": null,
"cds_length": 5016,
"cds_start": 4238,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001391907.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4238T>C",
"hgvs_p": "p.Met1413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378836.1",
"strand": false,
"transcript": "NM_001391907.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1640,
"aa_ref": "M",
"aa_start": 1382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7832,
"cdna_start": 6223,
"cds_end": null,
"cds_length": 4923,
"cds_start": 4145,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000684485.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4145T>C",
"hgvs_p": "p.Met1382Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507662.1",
"strand": false,
"transcript": "ENST00000684485.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1634,
"aa_ref": "M",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6253,
"cdna_start": 4635,
"cds_end": null,
"cds_length": 4905,
"cds_start": 4127,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001438678.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4127T>C",
"hgvs_p": "p.Met1376Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425607.1",
"strand": false,
"transcript": "NM_001438678.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1634,
"aa_ref": "M",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 4452,
"cds_end": null,
"cds_length": 4905,
"cds_start": 4127,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001438679.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4127T>C",
"hgvs_p": "p.Met1376Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425608.1",
"strand": false,
"transcript": "NM_001438679.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "M",
"aa_start": 1375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": 4632,
"cds_end": null,
"cds_length": 4902,
"cds_start": 4124,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001391905.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4124T>C",
"hgvs_p": "p.Met1375Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378834.1",
"strand": false,
"transcript": "NM_001391905.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "M",
"aa_start": 1375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 4455,
"cds_end": null,
"cds_length": 4902,
"cds_start": 4124,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000688741.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4124T>C",
"hgvs_p": "p.Met1375Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509547.1",
"strand": false,
"transcript": "ENST00000688741.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 4722,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4091,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001391902.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4091T>C",
"hgvs_p": "p.Met1364Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378831.1",
"strand": false,
"transcript": "NM_001391902.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "M",
"aa_start": 1364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 4538,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4091,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001391903.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4091T>C",
"hgvs_p": "p.Met1364Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378832.1",
"strand": false,
"transcript": "NM_001391903.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "M",
"aa_start": 1364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 4722,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4091,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001391904.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4091T>C",
"hgvs_p": "p.Met1364Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378833.1",
"strand": false,
"transcript": "NM_001391904.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "M",
"aa_start": 1363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 4719,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4088,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001198801.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4088T>C",
"hgvs_p": "p.Met1363Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185730.1",
"strand": false,
"transcript": "NM_001198801.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": 4632,
"cds_end": null,
"cds_length": 4779,
"cds_start": 4001,
"consequences": [
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],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001391901.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.4001T>C",
"hgvs_p": "p.Met1334Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378830.1",
"strand": false,
"transcript": "NM_001391901.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 4629,
"cds_end": null,
"cds_length": 4776,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001198802.3",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3998T>C",
"hgvs_p": "p.Met1333Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185731.1",
"strand": false,
"transcript": "NM_001198802.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5017,
"cds_end": null,
"cds_length": 4776,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000686579.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3998T>C",
"hgvs_p": "p.Met1333Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509941.1",
"strand": false,
"transcript": "ENST00000686579.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "M",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": 4611,
"cds_end": null,
"cds_length": 4758,
"cds_start": 3980,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001391892.1",
"gene_hgnc_id": 3298,
"gene_symbol": "EIF4G3",
"hgvs_c": "c.3980T>C",
"hgvs_p": "p.Met1327Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378821.1",
"strand": false,
"transcript": "NM_001391892.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "M",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4351,
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