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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: 6-104729694-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=104729694&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 104729694,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020771.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2698C>T",
"hgvs_p": "p.His900Tyr",
"transcript": "NM_020771.4",
"protein_id": "NP_065822.2",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 909,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262903.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020771.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2698C>T",
"hgvs_p": "p.His900Tyr",
"transcript": "ENST00000262903.9",
"protein_id": "ENSP00000262903.4",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 909,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020771.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262903.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.3719C>T",
"hgvs_p": null,
"transcript": "ENST00000369127.8",
"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": "ENST00000369127.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.*2360C>T",
"hgvs_p": null,
"transcript": "ENST00000416605.6",
"protein_id": "ENSP00000392425.2",
"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": "ENST00000416605.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.1212C>T",
"hgvs_p": null,
"transcript": "ENST00000517995.5",
"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": "pseudogene",
"feature": "ENST00000517995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.2139C>T",
"hgvs_p": null,
"transcript": "ENST00000518228.1",
"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": "ENST00000518228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.*2360C>T",
"hgvs_p": null,
"transcript": "ENST00000416605.6",
"protein_id": "ENSP00000392425.2",
"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": "ENST00000416605.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2731C>T",
"hgvs_p": "p.His911Tyr",
"transcript": "ENST00000851410.1",
"protein_id": "ENSP00000521469.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 920,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851410.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2692C>T",
"hgvs_p": "p.His898Tyr",
"transcript": "ENST00000851409.1",
"protein_id": "ENSP00000521468.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 907,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851409.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2623C>T",
"hgvs_p": "p.His875Tyr",
"transcript": "ENST00000950221.1",
"protein_id": "ENSP00000620280.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 884,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950221.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2608C>T",
"hgvs_p": "p.His870Tyr",
"transcript": "ENST00000914227.1",
"protein_id": "ENSP00000584286.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 879,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914227.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2602C>T",
"hgvs_p": "p.His868Tyr",
"transcript": "ENST00000950219.1",
"protein_id": "ENSP00000620278.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 877,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950219.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2599C>T",
"hgvs_p": "p.His867Tyr",
"transcript": "ENST00000914226.1",
"protein_id": "ENSP00000584285.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 876,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914226.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2596C>T",
"hgvs_p": "p.His866Tyr",
"transcript": "NM_001321083.2",
"protein_id": "NP_001308012.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 875,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321083.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2584C>T",
"hgvs_p": "p.His862Tyr",
"transcript": "ENST00000950220.1",
"protein_id": "ENSP00000620279.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 871,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950220.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2566C>T",
"hgvs_p": "p.His856Tyr",
"transcript": "NM_001321080.2",
"protein_id": "NP_001308009.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 865,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321080.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2476C>T",
"hgvs_p": "p.His826Tyr",
"transcript": "ENST00000851408.1",
"protein_id": "ENSP00000521467.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 835,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851408.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2464C>T",
"hgvs_p": "p.His822Tyr",
"transcript": "NM_001350554.2",
"protein_id": "NP_001337483.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 831,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350554.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.His803Tyr",
"transcript": "NM_001350555.2",
"protein_id": "NP_001337484.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350555.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.His803Tyr",
"transcript": "ENST00000851407.1",
"protein_id": "ENSP00000521466.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851407.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.His768Tyr",
"transcript": "ENST00000950222.1",
"protein_id": "ENSP00000620281.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 777,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950222.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.His738Tyr",
"transcript": "NM_001350556.2",
"protein_id": "NP_001337485.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 747,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}