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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: 3-2571552-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=2571552&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 2571552,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_175607.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "NM_175607.3",
"protein_id": "NP_783200.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": "ENST00000418658.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000418658.6",
"protein_id": "ENSP00000396010.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": "NM_175607.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "NM_001206955.2",
"protein_id": "NP_001193884.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "NM_001350095.2",
"protein_id": "NP_001337024.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000397461.5",
"protein_id": "ENSP00000380602.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000427331.5",
"protein_id": "ENSP00000413642.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000434053.5",
"protein_id": "ENSP00000404085.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 136,
"cds_start": 49,
"cds_end": null,
"cds_length": 412,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000422330.5",
"protein_id": "ENSP00000408594.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 115,
"cds_start": 49,
"cds_end": null,
"cds_length": 348,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "ENST00000455083.5",
"protein_id": "ENSP00000390560.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 53,
"cds_start": 49,
"cds_end": null,
"cds_length": 164,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_011533425.4",
"protein_id": "XP_011531727.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_011533427.3",
"protein_id": "XP_011531729.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_011533428.3",
"protein_id": "XP_011531730.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_011533429.3",
"protein_id": "XP_011531731.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_011533430.3",
"protein_id": "XP_011531732.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
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"cds_start": 49,
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"cdna_start": 561,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_017005782.2",
"protein_id": "XP_016861271.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_017005783.2",
"protein_id": "XP_016861272.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
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"cds_start": 49,
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"cdna_start": 1279,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_017005784.3",
"protein_id": "XP_016861273.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_047447516.1",
"protein_id": "XP_047303472.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_047447517.1",
"protein_id": "XP_047303473.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
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"cdna_start": 75771,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_047447518.1",
"protein_id": "XP_047303474.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
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"cdna_start": 72810,
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"cdna_length": 77581,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_047447519.1",
"protein_id": "XP_047303475.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
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"cdna_start": 70634,
"cdna_end": null,
"cdna_length": 75405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
"transcript": "XM_047447520.1",
"protein_id": "XP_047303476.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1026,
"cds_start": 49,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 69398,
"cdna_end": null,
"cdna_length": 74169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175607.3",
"gene_symbol": "CNTN4",
"hgnc_id": 2174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.49C>G",
"hgvs_p": "p.Leu17Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}