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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: 1-201365618-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201365618&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201365618,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000656932.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "NM_001276345.2",
"protein_id": "NP_001263274.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 298,
"cds_start": 286,
"cds_end": null,
"cds_length": 897,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "ENST00000656932.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "ENST00000656932.1",
"protein_id": "ENSP00000499593.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 298,
"cds_start": 286,
"cds_end": null,
"cds_length": 897,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "NM_001276345.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Asp85Tyr",
"transcript": "ENST00000367322.6",
"protein_id": "ENSP00000356291.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 284,
"cds_start": 253,
"cds_end": null,
"cds_length": 855,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.283G>T",
"hgvs_p": "p.Asp95Tyr",
"transcript": "ENST00000367320.6",
"protein_id": "ENSP00000356289.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 255,
"cds_start": 283,
"cds_end": null,
"cds_length": 768,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "ENST00000658476.1",
"protein_id": "ENSP00000499741.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 368,
"cds_start": 256,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "ENST00000714314.1",
"protein_id": "ENSP00000519590.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 298,
"cds_start": 286,
"cds_end": null,
"cds_length": 897,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "NM_000364.4",
"protein_id": "NP_000355.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 295,
"cds_start": 286,
"cds_end": null,
"cds_length": 888,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "NM_001406723.1",
"protein_id": "NP_001393652.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 295,
"cds_start": 286,
"cds_end": null,
"cds_length": 888,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr",
"transcript": "ENST00000422165.6",
"protein_id": "ENSP00000395163.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 295,
"cds_start": 286,
"cds_end": null,
"cds_length": 888,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Asp91Tyr",
"transcript": "ENST00000455702.7",
"protein_id": "ENSP00000402238.3",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 293,
"cds_start": 271,
"cds_end": null,
"cds_length": 882,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001001430.3",
"protein_id": "NP_001001430.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001276347.2",
"protein_id": "NP_001263276.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001406724.1",
"protein_id": "NP_001393653.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "ENST00000367318.10",
"protein_id": "ENSP00000356287.5",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "ENST00000509001.5",
"protein_id": "ENSP00000422031.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "ENST00000660295.1",
"protein_id": "ENSP00000499418.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 288,
"cds_start": 256,
"cds_end": null,
"cds_length": 867,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Asp85Tyr",
"transcript": "NM_001406725.1",
"protein_id": "NP_001393654.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 287,
"cds_start": 253,
"cds_end": null,
"cds_length": 864,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001001431.3",
"protein_id": "NP_001001431.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 285,
"cds_start": 256,
"cds_end": null,
"cds_length": 858,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001406726.1",
"protein_id": "NP_001393655.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 285,
"cds_start": 256,
"cds_end": null,
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"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "NM_001406727.1",
"protein_id": "NP_001393656.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 285,
"cds_start": 256,
"cds_end": null,
"cds_length": 858,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.256G>T",
"hgvs_p": "p.Asp86Tyr",
"transcript": "ENST00000412633.3",
"protein_id": "ENSP00000408731.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 285,
"cds_start": 256,
"cds_end": null,
"cds_length": 858,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Asp81Tyr",
"transcript": "NM_001406728.1",
"protein_id": "NP_001393657.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 283,
"cds_start": 241,
"cds_end": null,
"cds_length": 852,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Asp81Tyr",
"transcript": "NM_001001432.3",
"protein_id": "NP_001001432.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "TNNT2",
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"hgvs_c": "n.162+2160G>T",
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"transcript": "ENST00000662159.1",
"protein_id": "ENSP00000499796.1",
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}
],
"gene_symbol": "TNNT2",
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"dbsnp": "rs1553282768",
"frequency_reference_population": 0.0000013682305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136823,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9852825403213501,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.87,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.815,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000656932.1",
"gene_symbol": "TNNT2",
"hgnc_id": 11949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.286G>T",
"hgvs_p": "p.Asp96Tyr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671234.1",
"gene_symbol": "ENSG00000286600",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.329G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}