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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: 1-20825117-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20825117&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20825117,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001391907.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4351A>G",
"hgvs_p": "p.Asn1451Asp",
"transcript": "NM_001391906.1",
"protein_id": "NP_001378835.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1641,
"cds_start": 4351,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000602326.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391906.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4351A>G",
"hgvs_p": "p.Asn1451Asp",
"transcript": "ENST00000602326.6",
"protein_id": "ENSP00000473510.2",
"transcript_support_level": 1,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1641,
"cds_start": 4351,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001391906.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602326.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4291A>G",
"hgvs_p": "p.Asn1431Asp",
"transcript": "ENST00000400422.6",
"protein_id": "ENSP00000383274.2",
"transcript_support_level": 1,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4291,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400422.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.5113A>G",
"hgvs_p": "p.Asn1705Asp",
"transcript": "ENST00000693470.1",
"protein_id": "ENSP00000509295.1",
"transcript_support_level": null,
"aa_start": 1705,
"aa_end": null,
"aa_length": 1895,
"cds_start": 5113,
"cds_end": null,
"cds_length": 5688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693470.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4750A>G",
"hgvs_p": "p.Asn1584Asp",
"transcript": "ENST00000634879.2",
"protein_id": "ENSP00000489051.2",
"transcript_support_level": 5,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4750,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634879.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4669A>G",
"hgvs_p": "p.Asn1557Asp",
"transcript": "ENST00000685872.1",
"protein_id": "ENSP00000509442.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1747,
"cds_start": 4669,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685872.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4441A>G",
"hgvs_p": "p.Asn1481Asp",
"transcript": "NM_001391907.1",
"protein_id": "NP_001378836.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1671,
"cds_start": 4441,
"cds_end": null,
"cds_length": 5016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391907.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4348A>G",
"hgvs_p": "p.Asn1450Asp",
"transcript": "ENST00000684485.1",
"protein_id": "ENSP00000507662.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4348,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684485.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4330A>G",
"hgvs_p": "p.Asn1444Asp",
"transcript": "NM_001438678.1",
"protein_id": "NP_001425607.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4330,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438678.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4330A>G",
"hgvs_p": "p.Asn1444Asp",
"transcript": "NM_001438679.1",
"protein_id": "NP_001425608.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4330,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438679.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4327A>G",
"hgvs_p": "p.Asn1443Asp",
"transcript": "NM_001391905.1",
"protein_id": "NP_001378834.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1633,
"cds_start": 4327,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391905.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4327A>G",
"hgvs_p": "p.Asn1443Asp",
"transcript": "ENST00000688741.1",
"protein_id": "ENSP00000509547.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1633,
"cds_start": 4327,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688741.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4294A>G",
"hgvs_p": "p.Asn1432Asp",
"transcript": "NM_001391902.1",
"protein_id": "NP_001378831.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391902.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4294A>G",
"hgvs_p": "p.Asn1432Asp",
"transcript": "NM_001391903.1",
"protein_id": "NP_001378832.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391903.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4294A>G",
"hgvs_p": "p.Asn1432Asp",
"transcript": "NM_001391904.1",
"protein_id": "NP_001378833.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391904.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4291A>G",
"hgvs_p": "p.Asn1431Asp",
"transcript": "NM_001198801.3",
"protein_id": "NP_001185730.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4291,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198801.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4204A>G",
"hgvs_p": "p.Asn1402Asp",
"transcript": "NM_001391901.1",
"protein_id": "NP_001378830.1",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4204,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391901.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4201A>G",
"hgvs_p": "p.Asn1401Asp",
"transcript": "NM_001198802.3",
"protein_id": "NP_001185731.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198802.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4201A>G",
"hgvs_p": "p.Asn1401Asp",
"transcript": "ENST00000686579.1",
"protein_id": "ENSP00000509941.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686579.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4183A>G",
"hgvs_p": "p.Asn1395Asp",
"transcript": "NM_001391892.1",
"protein_id": "NP_001378821.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391892.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4183A>G",
"hgvs_p": "p.Asn1395Asp",
"transcript": "NM_001391893.1",
"protein_id": "NP_001378822.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391893.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4G3",
"gene_hgnc_id": 3298,
"hgvs_c": "c.4183A>G",
"hgvs_p": "p.Asn1395Asp",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}