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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: 14-105478775-CTG-GTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105478775&ref=CTG&alt=GTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CRIP2",
"hgnc_id": 2361,
"hgvs_c": "c.463_465delCTGinsGTA",
"hgvs_p": "p.Leu155Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001270837.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 208,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 283,
"cds_end": null,
"cds_length": 627,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001312.4",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000329146.9",
"protein_coding": true,
"protein_id": "NP_001303.1",
"strand": true,
"transcript": "NM_001312.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 208,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 283,
"cds_end": null,
"cds_length": 627,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000329146.9",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001312.4",
"protein_coding": true,
"protein_id": "ENSP00000328521.5",
"strand": true,
"transcript": "ENST00000329146.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000548309.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "n.1036_1038delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000548309.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "L",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 766,
"cds_end": null,
"cds_length": 849,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270837.2",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.463_465delCTGinsGTA",
"hgvs_p": "p.Leu155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257766.1",
"strand": true,
"transcript": "NM_001270837.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "L",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 749,
"cds_end": null,
"cds_length": 849,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483017.7",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.463_465delCTGinsGTA",
"hgvs_p": "p.Leu155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426119.2",
"strand": true,
"transcript": "ENST00000483017.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": 313,
"cds_end": null,
"cds_length": 690,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852172.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522231.1",
"strand": true,
"transcript": "ENST00000852172.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 300,
"cds_end": null,
"cds_length": 666,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942978.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613037.1",
"strand": true,
"transcript": "ENST00000942978.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 207,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 316,
"cds_end": null,
"cds_length": 624,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942977.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613036.1",
"strand": true,
"transcript": "ENST00000942977.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 204,
"aa_ref": "L",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 271,
"cds_end": null,
"cds_length": 615,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852175.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.229_231delCTGinsGTA",
"hgvs_p": "p.Leu77Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522234.1",
"strand": true,
"transcript": "ENST00000852175.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 204,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 525,
"cds_end": null,
"cds_length": 615,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942976.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613035.1",
"strand": true,
"transcript": "ENST00000942976.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 199,
"aa_ref": "L",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1155,
"cdna_start": 260,
"cds_end": null,
"cds_length": 600,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942980.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.214_216delCTGinsGTA",
"hgvs_p": "p.Leu72Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613039.1",
"strand": true,
"transcript": "ENST00000942980.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 194,
"aa_ref": "L",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 313,
"cds_end": null,
"cds_length": 585,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852173.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.241_243delCTGinsGTA",
"hgvs_p": "p.Leu81Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522232.1",
"strand": true,
"transcript": "ENST00000852173.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 191,
"cds_end": null,
"cds_length": 576,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538259.2",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.190_192delCTGinsGTA",
"hgvs_p": "p.Leu64Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437723.2",
"strand": true,
"transcript": "ENST00000538259.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": null,
"cds_end": null,
"cds_length": 486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942979.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.197-204_197-202delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613038.1",
"strand": true,
"transcript": "ENST00000942979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942981.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.44-204_44-202delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613040.1",
"strand": true,
"transcript": "ENST00000942981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 817,
"cdna_start": null,
"cds_end": null,
"cds_length": 312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550577.5",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.92-350_92-348delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446875.1",
"strand": true,
"transcript": "ENST00000550577.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 815,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270841.2",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.44-350_44-348delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257770.1",
"strand": true,
"transcript": "NM_001270841.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852174.1",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "c.138+415_138+417delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522233.1",
"strand": true,
"transcript": "ENST00000852174.1",
"transcript_support_level": null
},
{
"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": 1373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000547643.5",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "n.272_274delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000547643.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000548923.5",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "n.581_*1delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000548923.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000548989.5",
"gene_hgnc_id": 2361,
"gene_symbol": "CRIP2",
"hgvs_c": "n.1082_1084delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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