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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: 4-105236713-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105236713&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105236713,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000380013.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "NM_001127208.3",
"protein_id": "NP_001120680.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "ENST00000380013.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "ENST00000380013.9",
"protein_id": "ENSP00000369351.4",
"transcript_support_level": 5,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "NM_001127208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2834A>T",
"hgvs_p": "p.His945Leu",
"transcript": "ENST00000513237.5",
"protein_id": "ENSP00000425443.1",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 2023,
"cds_start": 2834,
"cds_end": null,
"cds_length": 6072,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "ENST00000540549.5",
"protein_id": "ENSP00000442788.1",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "ENST00000413648.2",
"protein_id": "ENSP00000391448.2",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "ENST00000305737.6",
"protein_id": "ENSP00000306705.2",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "NM_017628.4",
"protein_id": "NP_060098.3",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_005263082.4",
"protein_id": "XP_005263139.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 2921,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_024454102.2",
"protein_id": "XP_024309870.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 9702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_024454103.2",
"protein_id": "XP_024309871.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 2002,
"cds_start": 2771,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_006714242.4",
"protein_id": "XP_006714305.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1902,
"cds_start": 2771,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 9289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_047415839.1",
"protein_id": "XP_047271795.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_047415840.1",
"protein_id": "XP_047271796.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1228,
"cds_start": 2771,
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"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_047415841.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_017008319.2",
"protein_id": "XP_016863808.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2771,
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"cdna_start": 3067,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_047415842.1",
"protein_id": "XP_047271798.1",
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.2771A>T",
"hgvs_p": "p.His924Leu",
"transcript": "XM_047415843.1",
"protein_id": "XP_047271799.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2771,
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"cdna_start": 2921,
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"cdna_length": 5974,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.2771A>T",
"hgvs_p": null,
"transcript": "ENST00000265149.9",
"protein_id": "ENSP00000265149.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.3067A>T",
"hgvs_p": null,
"transcript": "XR_007057933.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.228-59041T>A",
"hgvs_p": null,
"transcript": "ENST00000776423.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.264+22413T>A",
"hgvs_p": null,
"transcript": "ENST00000776424.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.289-59041T>A",
"hgvs_p": null,
"transcript": "ENST00000776425.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.319-59041T>A",
"hgvs_p": null,
"transcript": "NR_126420.1",
"protein_id": null,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.52,
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"intron_variant"
],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}