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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: 11-115209591-ATGGTGGTGGTGGTGGTGGTGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=115209591&ref=ATGGTGGTGGTGGTGGTGGTGG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 115209591,
"ref": "ATGGTGGTGGTGGTGGTGGTGG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001301043.2",
"consequences": [
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "NM_001301043.2",
"protein_id": "NP_001287972.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 471,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331581.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301043.2"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "ENST00000331581.11",
"protein_id": "ENSP00000329797.6",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 471,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301043.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331581.11"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "ENST00000537058.5",
"protein_id": "ENSP00000439817.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 453,
"cds_start": 1040,
"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": "ENST00000537058.5"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "ENST00000452722.7",
"protein_id": "ENSP00000395359.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 442,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452722.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.994+4996_994+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "ENST00000536727.5",
"protein_id": "ENSP00000440322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536727.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.994+4996_994+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "ENST00000542447.6",
"protein_id": "ENSP00000439176.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542447.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.988+4996_988+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "ENST00000545380.5",
"protein_id": "ENSP00000442387.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": null,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545380.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.1123+4996_1123+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "ENST00000537140.5",
"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": "ENST00000537140.5"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1094_1114delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr365_Thr371del",
"transcript": "ENST00000878174.1",
"protein_id": "ENSP00000548233.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 489,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878174.1"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1094_1114delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr365_Thr371del",
"transcript": "ENST00000878173.1",
"protein_id": "ENSP00000548232.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 471,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878173.1"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1094_1114delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr365_Thr371del",
"transcript": "ENST00000878172.1",
"protein_id": "ENSP00000548231.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 460,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878172.1"
},
{
"aa_ref": "TTTTTTTI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "NM_001301044.2",
"protein_id": "NP_001287973.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 453,
"cds_start": 1040,
"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": "NM_001301044.2"
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del",
"transcript": "NM_014333.4",
"protein_id": "NP_055148.3",
"transcript_support_level": null,
"aa_start": 347,
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"cds_start": 1040,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_014333.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1058_1078delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr353_Thr359del",
"transcript": "XM_017017457.3",
"protein_id": "XP_016872946.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 477,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017017457.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1058_1078delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr353_Thr359del",
"transcript": "XM_047426690.1",
"protein_id": "XP_047282646.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1058_1078delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr353_Thr359del",
"transcript": "XM_047426692.1",
"protein_id": "XP_047282648.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.599_619delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr200_Thr206del",
"transcript": "XM_047426695.1",
"protein_id": "XP_047282651.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
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"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.994+4996_994+5016delCCACCACCACCACCACCACCA",
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"transcript": "NM_001301045.2",
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},
{
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "CADM1",
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"hgvs_c": "c.1048+4996_1048+5016delCCACCACCACCACCACCACCA",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.994+4996_994+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "NM_001098517.2",
"protein_id": "NP_001091987.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 414,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098517.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.871+4996_871+5016delCCACCACCACCACCACCACCA",
"hgvs_p": null,
"transcript": "ENST00000612235.4",
"protein_id": "ENSP00000483648.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 346,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
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{
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{
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{
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
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"gene_symbol": "CADM1",
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"hgvs_c": "n.133_153delCCACCACCACCACCACCACCA",
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"transcript": "ENST00000441886.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441886.2"
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],
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"dbsnp": "rs747352768",
"frequency_reference_population": 0.00002270555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000216328,
"gnomad_genomes_af": 0.0000287687,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.963,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
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"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "NM_001301043.2",
"gene_symbol": "CADM1",
"hgnc_id": 5951,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1040_1060delCCACCACCACCACCACCACCA",
"hgvs_p": "p.Thr347_Thr353del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}