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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: 9-69220926-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69220926&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 69220926,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377245.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "NM_004817.4",
"protein_id": "NP_004808.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1190,
"cds_start": 382,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "ENST00000377245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "ENST00000377245.9",
"protein_id": "ENSP00000366453.4",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 1190,
"cds_start": 382,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": "NM_004817.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285130",
"gene_hgnc_id": null,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.Gln257Lys",
"transcript": "ENST00000642889.1",
"protein_id": "ENSP00000493780.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 1319,
"cds_start": 769,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "ENST00000348208.9",
"protein_id": "ENSP00000345893.4",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 1043,
"cds_start": 382,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "n.461C>A",
"hgvs_p": null,
"transcript": "ENST00000636247.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Gln187Lys",
"transcript": "ENST00000636438.1",
"protein_id": "ENSP00000489860.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 1249,
"cds_start": 559,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Gln159Lys",
"transcript": "NM_001170416.2",
"protein_id": "NP_001163887.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1221,
"cds_start": 475,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Gln159Lys",
"transcript": "ENST00000539225.2",
"protein_id": "ENSP00000438262.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 1221,
"cds_start": 475,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Gln132Lys",
"transcript": "NM_001369875.1",
"protein_id": "NP_001356804.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1194,
"cds_start": 394,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Gln129Lys",
"transcript": "ENST00000650084.1",
"protein_id": "ENSP00000497861.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1191,
"cds_start": 385,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Gln105Lys",
"transcript": "NM_001369871.1",
"protein_id": "NP_001356800.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1167,
"cds_start": 313,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Gln105Lys",
"transcript": "NM_001369870.1",
"protein_id": "NP_001356799.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1165,
"cds_start": 313,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Gln132Lys",
"transcript": "NM_001170415.1",
"protein_id": "NP_001163886.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1157,
"cds_start": 394,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Gln132Lys",
"transcript": "ENST00000535702.6",
"protein_id": "ENSP00000442090.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 1157,
"cds_start": 394,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "NM_001369872.1",
"protein_id": "NP_001356801.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1153,
"cds_start": 382,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Gln105Lys",
"transcript": "ENST00000650333.1",
"protein_id": "ENSP00000496791.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1128,
"cds_start": 313,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "ENST00000649943.1",
"protein_id": "ENSP00000497539.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1099,
"cds_start": 382,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "NM_001369873.1",
"protein_id": "NP_001356802.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1082,
"cds_start": 382,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Gln132Lys",
"transcript": "NM_001369874.1",
"protein_id": "NP_001356803.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1047,
"cds_start": 394,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Gln132Lys",
"transcript": "ENST00000649134.1",
"protein_id": "ENSP00000498068.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1047,
"cds_start": 394,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
"transcript": "NM_201629.3",
"protein_id": "NP_963923.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1043,
"cds_start": 382,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.313C>A",
"hgvs_p": "p.Gln105Lys",
"transcript": "NM_001170414.2",
"protein_id": "NP_001163885.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1020,
"cds_start": 313,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TJP2",
"gene_hgnc_id": 11828,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys",
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377245.9",
"gene_symbol": "TJP2",
"hgnc_id": 11828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Gln128Lys"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000642889.1",
"gene_symbol": "ENSG00000285130",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.769C>A",
"hgvs_p": "p.Gln257Lys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}