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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: 2-233281126-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233281126&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233281126,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363742.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ser361Phe",
"transcript": "NM_030803.7",
"protein_id": "NP_110430.5",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 607,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392017.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030803.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ser361Phe",
"transcript": "ENST00000392017.9",
"protein_id": "ENSP00000375872.4",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 607,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030803.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392017.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Ser342Phe",
"transcript": "ENST00000392020.8",
"protein_id": "ENSP00000375875.4",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 588,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392020.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Ser198Phe",
"transcript": "ENST00000347464.9",
"protein_id": "ENSP00000318259.6",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 444,
"cds_start": 593,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347464.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "n.*963C>T",
"hgvs_p": null,
"transcript": "ENST00000392021.7",
"protein_id": "ENSP00000375876.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000392021.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "n.1228C>T",
"hgvs_p": null,
"transcript": "ENST00000479942.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "n.*963C>T",
"hgvs_p": null,
"transcript": "ENST00000392021.7",
"protein_id": "ENSP00000375876.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000392021.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ser386Phe",
"transcript": "ENST00000962356.1",
"protein_id": "ENSP00000632415.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 632,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962356.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "NM_001363742.2",
"protein_id": "NP_001350671.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 624,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363742.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ser378Phe",
"transcript": "ENST00000392018.1",
"protein_id": "ENSP00000375873.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 624,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392018.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Ser360Phe",
"transcript": "ENST00000962361.1",
"protein_id": "ENSP00000632420.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 606,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962361.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ser359Phe",
"transcript": "ENST00000962354.1",
"protein_id": "ENSP00000632413.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 605,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962354.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ser346Phe",
"transcript": "ENST00000905940.1",
"protein_id": "ENSP00000575999.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 592,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905940.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Ser342Phe",
"transcript": "NM_017974.4",
"protein_id": "NP_060444.3",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 588,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017974.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ser361Phe",
"transcript": "ENST00000962355.1",
"protein_id": "ENSP00000632414.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 583,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962355.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Ser277Phe",
"transcript": "NM_001190266.2",
"protein_id": "NP_001177195.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 523,
"cds_start": 830,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190266.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ser258Phe",
"transcript": "ENST00000905941.1",
"protein_id": "ENSP00000576000.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 504,
"cds_start": 773,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905941.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Ser245Phe",
"transcript": "NM_001190267.2",
"protein_id": "NP_001177196.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 491,
"cds_start": 734,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190267.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ser217Phe",
"transcript": "ENST00000905939.1",
"protein_id": "ENSP00000575998.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 463,
"cds_start": 650,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905939.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Phe",
"transcript": "ENST00000962358.1",
"protein_id": "ENSP00000632417.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 461,
"cds_start": 644,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962358.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ser207Phe",
"transcript": "ENST00000962359.1",
"protein_id": "ENSP00000632418.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 453,
"cds_start": 620,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962359.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L1",
"gene_hgnc_id": 21498,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ser202Phe",
"transcript": "ENST00000962360.1",
"protein_id": "ENSP00000632419.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 448,
"cds_start": 605,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"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
}