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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: 3-3052626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3052626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CNTN4",
"hgnc_id": 2174,
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_175607.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CNTN4-AS1",
"hgnc_id": 39985,
"hgvs_c": "n.79+8441G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000442749.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 26535,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_175607.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000418658.6",
"protein_coding": true,
"protein_id": "NP_783200.1",
"strand": true,
"transcript": "NM_175607.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418658.6",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175607.3",
"protein_coding": true,
"protein_id": "ENSP00000396010.1",
"strand": true,
"transcript": "ENST00000418658.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 698,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": 2097,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397459.6",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.1828-1181C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380600.2",
"strand": true,
"transcript": "ENST00000397459.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484686.1",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "n.1062-1181C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484686.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5204,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206955.2",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193884.1",
"strand": true,
"transcript": "NM_001206955.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5453,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350095.2",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337024.1",
"strand": true,
"transcript": "NM_001350095.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397461.5",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380602.1",
"strand": true,
"transcript": "ENST00000397461.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4980,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427331.5",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413642.1",
"strand": true,
"transcript": "ENST00000427331.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968521.1",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638580.1",
"strand": true,
"transcript": "ENST00000968521.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 972,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": 2919,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968522.1",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2650-1181C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638581.1",
"strand": true,
"transcript": "ENST00000968522.1",
"transcript_support_level": null
},
{
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"aa_length": 698,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": null,
"cds_end": null,
"cds_length": 2097,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_175613.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.1828-1181C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_783302.1",
"strand": true,
"transcript": "NM_175613.3",
"transcript_support_level": null
},
{
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"aa_length": 697,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001206956.2",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.1825-1181C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001193885.1",
"strand": true,
"transcript": "NM_001206956.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "XM_011533425.4",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531727.1",
"strand": true,
"transcript": "XM_011533425.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5434,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "XM_011533427.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531729.1",
"strand": true,
"transcript": "XM_011533427.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5003,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533428.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531730.1",
"strand": true,
"transcript": "XM_011533428.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533429.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531731.1",
"strand": true,
"transcript": "XM_011533429.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533430.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
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"intron_rank": 21,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011531732.1",
"strand": true,
"transcript": "XM_011533430.3",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "XM_017005782.2",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861271.1",
"strand": true,
"transcript": "XM_017005782.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
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"feature": "XM_017005783.2",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
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"intron_rank": 24,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861272.1",
"strand": true,
"transcript": "XM_017005783.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005784.3",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861273.1",
"strand": true,
"transcript": "XM_017005784.3",
"transcript_support_level": null
},
{
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"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447516.1",
"gene_hgnc_id": 2174,
"gene_symbol": "CNTN4",
"hgvs_c": "c.2812-1181C>T",
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